Why Are The Whites Of My Eyes Blue?
Sclera: Definition, Anatomy & Function The sclera, or white of the eye, is strong tissue that wraps around the eyeball. It helps maintain your eyeball’s shape and protects it from injury. Several things can make the entire sclera change color or cause spots of color. Many scleral conditions resolve on their own in a few weeks, but some require medical attention. The sclera wraps around the eyeball. The sclera, or white of the eye, is a protective covering that wraps over most of the eyeball. It extends from the in the front to the optic nerve in the back. This strong layer of tissue, which is no more than a millimeter thick, gives your eyeball its white color.
- It also protects and supports your eye.
- The plural for sclera is sclerae.
- The sclera functions as the supporting wall of the eyeball.
- It helps maintain your eyeball’s shape, and protects it from injury.
- The sclera is covered by conjunctiva, which are clear mucus membranes that lubricate (moisturize) your eye.
Muscles attached to the sclera help move your eyeball up and down and side to side. The sclera is made of tough collagen fibers, which crisscross in random directions. That random pattern gives your eyeball its white color and gives the sclera strength.
Episclera, clear, thin tissue resting on top of the whites of your eyeballs. Stroma, made up of fibroblasts and collagen fibers, blending into the episclera. Lamina fusca, a transitional layer between the sclera and the choroid and ciliary body outer layers. Endothelium, the basal, or innermost layer of the sclera.
Several things can cause the entire sclera to change color or spots of color to appear:
Blue sclera: If the sclera is thinner than normal, blood vessels may show through, giving your eyeballs a blue or gray hue. This may occur in people with certain health conditions. Examples include (a genetic bone disease) and (a disorder in connective tissue throughout the body). Other examples include iron deficiency and, Icteric sclera and jaundice: If the entire sclerae turn yellow, that could mean you have, Jaundice indicates liver disease, which means the liver isn’t filtering blood properly. Injury: If your eyeball is injured, it may have a bright red spot. This indicates a broken blood vessel that has leaked some blood. These red spots are usually harmless and go away in a few days or weeks. Irritation: If your eyes are “bloodshot,” you can see redness throughout the sclerae. Eyes may be irritated due to smoke, allergies, exhaustion or infection. Medication: Some medications can tint the sclerae blue or gray (for example, an antibiotic called minocycline). Melanosis: Your sclera may contain a flat, brown spot, almost like a freckle. This is more common in Black people. The spots are caused by high levels of pigment called melanin, and they’re harmless. Pinguecula: A small patch of yellow may bulge out from your sclera after damage from the sun, wind or dust. The patch may become inflamed and turn pink or red. Pterygium: If a pinguecula goes untreated, it can get larger, expand into the cornea and block vision. Primary acquired melanosis (PAM): If you have a flat brown spot on the eye that changes over time, this may indicate PAM. This condition can become cancerous, so report any new or changing spots on the sclera.
Should I worry about blue sclera?
What is blue sclera? – Blue sclera is a condition in which the white part of the eye ( sclera ) has a blue, gray or purplish tint. In many cases, blue tint in the sclera occurs as a symptom of an underlying condition, or as a reaction to certain medication.
One or both eyes may have a bluish sclera, and it’s usually not painful. Depending on the cause, blue in the whites of the eyes may be visible at birth or may become noticeable later on in life. Having a blue sclera is relatively harmless and no cause for alarm. However, it could be a symptom of a more serious underlying condition.
If you notice a sudden change in sclera color, see an eye doctor. They can examine your eyes, determine the cause and offer treatment options.
What is blue sclera a symptom of?
Sir, A 16-year-old boy was referred to our department for ruling out a metabolic bone disorder. He presented to the emergency with an elbow fracture due to a fall on out-stretched hand. He denied history of recurrent fractures, deafness, skeletal deformities, and dentition abnormalities.
His past medical history was otherwise normal and none of the immediate family members had history of fractures. Systemic examination was unremarkable except for the fracture olecranon process on the right side. Ophthalmic examination revealed bluish sclera (Panel A) involving the right eye (Panel B) as shown in Figure 1,
His visual acuity, field of vision, color vision, pupillary reflexes, and extraocular movements were normal in both eyes. Skeletal survey and markers of bone metabolism were normal. He was diagnosed as a case of idiopathic unilateral bluish sclera and was kept under follow-up. Bluish sclera of right eye (a) in close up (b) Bluish sclera is associated with osteogenesis imperfecta, Marfan’s syndrome, Ehlers Danlos syndrome, Blue sclera syndrome (Van der Heave syndrome), incontinentia pigmenti, and many other inherited conditions.
- The sclera is involved bilaterally in all these conditions and the unilateral appearance is a rarity.
- Unilateral bluish sclera is reported earlier with nevus depigmentosus, familial, and idiopathic in origin.
- The bluish hue of the sclera is due to the thinning of the collagen fibers and increased transparency which exposes the underlying uvea.
The bluish sclera, therefore, is seen in many conditions with the defective type 1 collagen formation. Osteogenesis imperfecta is the classical condition associated with the bluish sclera. However, our patient did not have any features to suggest the same.
It is essential to screen for musculoskeletal and connective tissue abnormalities in patients with blue sclera. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal.
The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Why is the white part of my eye yellow and blue?
The whites of your eyes (called the sclera) turn yellow when you have a condition called jaundice. The whites of your eyes might turn yellow when your body has too much of a chemical called bilirubin, a yellow substance that forms when red blood cells break down.
Normally, it’s not a problem. Your liver filters bilirubin from your blood and uses it to make a fluid called bile. Bile moves through thin tubes (called bile ducts) to get to your digestive tract and then out of your body as waste. But if you have too much bilirubin in your blood or if your liver can’t get rid of it fast enough, it builds up in your body and can turn your eyes yellow.
That’s jaundice. Find out more on why jaundice happens in adults,
Is blue sclera permanent?
Treatment – Most cases of blue sclera are harmless, and treatment only involves identifying and eradicating the underlying cause (in cases where it can be eradicated). Supportive treatment may sometimes be offered to ensure that the condition does not deteriorate. : Blue Sclerae
What does it mean when you have blue in your eyes?
Blue sclera Complete Medical Definition of This Eye Condition / blue sclera definition Blue sclera: a bluish coloration of the whites of the eyes. The blue color is caused by thinness and transparency of the collagen fibers of the sclera, allowing the veins in the underlying tissue to show through.
Why does the white of my child’s eye have a blue tint?
Key words –
- iron deficiency anemia
- blue sclera
- infant
A 12-month-old Japanese boy presented with cyanotic breath-holding spells. He began crying excessively, then held his breath until he became cyanotic. He had achieved the normal physical and neurologic milestones for his age and had no history of bone fractures.
- There were no signs or history of external or gastrointestinal bleeding.
- On presentation, he was alert and playing.
- His heart rate, respiratory rate, and body temperature was 154 beats per minute, 32 breaths per minute, and 36.8°C, respectively.
- Findings of the physical examination revealed pallor and a bluish tinge to the sclera ( Figure, A).
Suspecting underlying iron deficiency anemia, we performed a blood test, which revealed microcytic anemia with hemoglobin 6.0 g/dL, mean corpuscular volume 44 fL, serum iron 18 μg/dL, and serum ferritin 5.3 ng/mL. Administration of an iron supplement 3 mg/kg/d increased his hemoglobin to 9.0 g/dL at the 1-month follow up, confirming the diagnosis of iron deficiency anemia.
Brooks J.K.
A review of syndromes associated with blue sclera, with inclusion of malformations of the head and neck. In most cases, the bluish tint originates in the underlying uvea instead of the sclera itself; defects in collagen structure decrease the thickness of the sclera, making the vascularity of the uvea visible through the overlying sclera.
Brooks J.K.
A review of syndromes associated with blue sclera, with inclusion of malformations of the head and neck. An association between blue sclera and iron deficiency anemia was first reported in 1908 by Sir William Osler.2
Osler W.
Primary or essential anemia. Iron deficiency anemia places a significant burden on the neurologic development of children, and its association with breath-holding spells was described in the previous study.3
Wang M.
Iron deficiency and other types of anemia in infants and children., 4
- Mocan H.
- Yildiran A.
- Orhan F.
- Erduran E.
Breath holding spells in 91 children and response to treatment with iron. However, prompt recognition of iron deficiency anemia is sometimes difficult because it is often asymptomatic.3
Wang M.
Iron deficiency and other types of anemia in infants and children. The presence of blue sclera should alert pediatricians to the possibility of iron deficiency anemia, especially in children older than 6 months.
Is blue sclera due to anemia?
A 46-year-old woman presented with a 3-month history of progressive fatigue and shortness of breath. She had a history of uterine fibroids with heavy menstrual bleeding but had missed her gynecologic follow-up examination 2 years earlier. Physical examination revealed facial and conjunctival rim pallor, blue sclera ( Figure 1A ) with conjunctival rim pallor, and koilonychia.
Laboratory tests were hemoglobin 4.0 g/dL (reference range 12–16), hematocrit 16.7% (37–47), mean corpuscular volume 54.8 fL (80–98), serum ferritin 0.8 ng/mL (24–307), and transferrin saturation 2.8% (20%–50%). Iron deficiency anemia was diagnosed. Figure 1 (A) Bluish sclera with peculiar brilliancy and pale skin at presentation.
(B) Normalized sclera color 3 months after iron supplementation therapy. The patient received a blood transfusion and began taking iron supplements. Her uterine fibroids were treated with oral gonadotropin-releasing hormone antagonists. Three months later, her symptoms and physical findings, including the blue sclera ( Figure 1B ), had resolved, and her hemoglobin and ferritin levels had normalized.
Blue sclera is a common and useful finding of iron deficiency but is often overlooked. In 1908, Sir William Osler first described a blue discoloration of the sclera as a symptom of anemia in young girls and wrote that the eyes “have a peculiar brilliancy and the sclerotics are of a bluish color”.1 Kalra et al 2 subsequently found that blue sclera is more common in patients with iron deficiency anemia (87%) than in those with other types of anemia (7%).
In adult patients, blue sclera reportedly has 87% to 89% sensitivity and 64% to 94% specificity for iron deficiency anemia and iron deficiency (ie, anemia need not always be present).2, 3 Blue sclera has been reported in other conditions, albeit rarely, including rheumatoid arthritis, myasthenia gravis, and long-term steroid therapy.2 Its pathogenesis is thought to involve thinning of the collagen fibers of the sclera due to iron deficiency, which allows the bluish color of the underlying uvea to become visible.
How do you get rid of blue sclera?
Bilateral fractures of acetabulum in a young girl with osteogenesis imperfecta and epilepsy
| CASE REPORT | |
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Blue sclera and osteogenesis imperfecta – A rare association, Department of Ophthalmology, Andaman and Nicobar Islands Institution of Medical Science, Port Blair, Andaman and Nicobar Islands, India
| Date of Web Publication | 30-Jan-2018 |
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DOI: 10.4103/kjo.kjo_75_17 The sclera is a dense poorly vascularized connective tissue structure composed of Types I, III, IV, V, VI, and VIII collagen. The characteristic blue sclera is caused by thinness and transparency of the collagen fibers of the sclera that allow visualization of the underlying uvea.
| How to cite this article: Das S, Bhatnagar K. Blue sclera and osteogenesis imperfecta – A rare association. Kerala J Ophthalmol 2017;29:240-3 |
The sclera is a dense poorly vascularized connective tissue structure composed of Types I, III, IV, V, VI, and VIII collagen, as well as elastin, proteoglycans, and glycoproteins. The characteristic blue sclera is caused by thinness and transparency of the collagen fibers of the sclera that allow visualization of the underlying uvea. The sclera may be thinned in congenital diseases such as osteogenesis imperfecta (OI) or in acquired diseases such as iron deficiency anemia. Severe forms are most often diagnosed early in life, but mild cases may not be noted until later in life. The blue-gray color of the sclera is due to the underlying choroidal veins which show through. This is due to the sclera being thinner than normal because the defective Type I collagen is not forming correctly. Epidemiology In the United States, the incidence of OI is estimated to be one per 20,000 live births. An estimated 20,000-50,000 people are affected by OI in the United States. Pathophysiology People with OI are born with defective connective tissue, or without the ability to make it, usually because of a deficiency of Type I collagen. This deficiency arises from an amino acid substitution of glycine to bulkier amino acids in the collagen triple helix structure. As a result, the body may respond by hydrolyzing the improper collagen structure. If the body does not destroy the improper collagen; the relationship between the collagen fibrils and hydroxyapatite crystals to form bone is altered, causing brittleness. As a genetic disorder, OI has historically been viewed as an autosomal dominant disorder of Type I collagen. Most cases have been caused by mutations in the COL1A1 and COL1A2 genes. In the past several years, there has been the identification of autosomal recessive forms. At least seven subsets have been described although four major subtypes are most common and range from mild to severe. Individuals with Type I OI have little bone deformity, persistent blue sclera, near normal height by adulthood, and a >50% chance of hearing loss by adulthood. Patients with perinatal lethal (Type II) OI show the greatest severity, with multiple fractures in utero or from the delivery. These patients usually are stillborn or die early. The severity of OI depends on the specific gene defect. Most cases of OI are inherited from a parent. However, some cases are the result of new genetic mutations. A person with OI has a 50% chance of passing on the gene and the disease to his or her children. Symptoms The fact that most of the children plus the mother have blue sclera should lead you to a genetic link. The findings of developmental delay, iron deficiency, and dental caries and one child’s history of a fracture should lead you to review the various presentations of OI. All people with OI have weak bones, and fractures are more likely. People with OI often have short stature because of their compressive leg fractures. However, the severity of the disease varies greatly.The classic symptoms include:
- Blue tint to the whites of their eyes (blue sclera)
- Multiple bone fractures
- Early hearing loss (deafness).
Because Type I collagen is also found in ligaments, people with OI often have loose joints (hypermobility) and flat feet. Symptoms of more severe forms of OI may include:
- Bowed legs and arms
- Kyphosis
- Scoliosis (S-curve spine).
- Exams and tests
- Possible complications
- Complications are largely based on the type of OI present.
OI is most often suspected in children whose bones break with very little force. A physical exam may show that the whites of their eyes have a blue tint. A definitive diagnosis may be made using a skin punch biopsy. Family members may be given a DNA blood test.
- Hearing loss (common in Type I and Type III)
- Heart failure (Type II)
- Respiratory problems and pneumonia due to chest wall deformities
- Spinal cord or brain stem problems
- Permanent deformity.
Outlook (prognosis) How well a person does depends on the type of OI they have.
- Type I, or mild OI, is the most common form. People with this type can live a normal lifespan
- Type II is a severe form that often leads to death in the first year of life
- Type III is also called severe OI. People with this type have many fractures starting very early in life and can have severe bone deformities. Many people need to use a wheelchair and often have a somewhat shortened life expectancy
- Type IV, or moderately severe OI, is similar to Type I, although people with Type IV often need braces or crutches to walk. Life expectancy is normal or near normal.
Treatment There is not yet a cure for this disease. However, specific therapies can reduce the pain and complications from OI. Drugs that can increase the strength and density of bone are called bisphosphonates. Low-impact exercises, such as swimming, keep muscles strong and help maintain strong bones.
- People with OI can benefit from these exercises and should be encouraged to do them.
- In more severe cases, surgery to place metal rods into the long bones of the legs may be considered.
- This procedure can strengthen the bone and reduce the risk for fracture.
- Bracing can also be helpful for some people.
Surgery may be needed to correct any deformities. This treatment is important because deformities (such as bowed legs or a spinal problem) can interfere with a person’s ability to move or walk. Prevention Genetic counseling is recommended for couples considering pregnancy if there is a personal or family history of this condition.
- A 32 years old male patient of Andaman & Nicobar Island reported to our OPD with an enquiry of his blue colouration of both eyes and whether this will transmitted to his next generation or not if married.
- On history he had it since his childhood without associate with any visual complaints, hearing defect, any bony pain except for bony deformity of both hands.
He had short legs after an accidental fall from a height of 15 feet at the age of 8 years old. On enquiry there was a compressive fracture of both legs. There was no associated blue sclera running in the family. On examination his best corrected (BCVA) was 6/6 in both eyes; intraocular pressure in both eyes was 15 mmHg.
On anterior segment examination lids were normal, extra ocular movements was normal, there was blue sclera in eyes, cornea, conjunctiva and lens was normal. On dilated eye examination fundus was normal. On systemic examination he had bow arms, short legs, no spinal cord and chest deformity. X-ray both hands shows arm deformity,
There was no gait abnormality. This patient was then sent to orthopaedic OPD for further evaluation.
| Figure 1: Blue sclera |
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The sclera is a dense poorly vascularized connective tissue structure composed of Types I, III, IV, V, VI, and VIII collagen, as well as elastin, proteoglycans, and glycoproteins. The characteristic blue sclera is caused by thinness and transparency of the collagen fibers of the sclera that allow visualization of the underlying uvea.
The sclera may be thinned in congenital diseases such as OI or in acquired diseases such as iron deficiency anemia. Severe forms are most often diagnosed early in life, but mild cases may not be noted until later in life. People with OI are born with defective connective tissue, or without the ability to make it, usually because of a deficiency of Type I collagen.
This deficiency arises from an amino acid substitution of glycine to bulkier amino acids in the collagen triple helix structure. The relationship between the collagen fibrils and hydroxyapatite crystals to form bone is altered in OI, causing brittleness of bones.
As a genetic disorder, OI has historically been viewed as an autosomal dominant disorder of Type I collagen. Most cases have been caused by mutations in the COL1A1 and COL1A2 genes. Diseases associated with blue sclera includes multiple connective tissue disorders, such as Marfan syndrome, Ehlers–Danlos syndrome, OI, pseudoxanthoma elasticum, and Willems De Vries syndrome, to name a few.
Bone and blood disorders also on the list include Diamond–Blackfan anemia, severe iron deficiency anemia, Juvenile Paget’s disease, and acid phosphatase deficiency. Most cases of OI are inherited from a parent. However, some cases are the result of new genetic mutations.
- A person with OI has a 50% chance of passing on the gene and the disease to his or her children.
- Prognosis depends on the type of disease – Type I is the most common and have normal life expectancy, whereas Types II–IV are severe one.
- Still now, there is no cure of this disease.
- Genetic counseling is recommended for couples considering pregnancy if there is a personal or family history of this condition.
Blue sclera may be associated with multisystem disorders so good history taking is most important. Most dreaded complication associated are OI, cardiac abnormalities, and hearing defects. Osteogenesis imperfecta is a autosomal disorder, and genetic counseling is recommended for couples considering pregnancy if there is a personal or family history of this condition.
- Declaration of patient consent
- Financial support and sponsorship
- Conflicts of interest
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.Nil.There are no conflicts of interest.
| Rauch F, Glorieux FH. Osteogenesis imperfecta. Lancet 2004;363:1377-85. | |
| Glorieux FH, Rauch F, Plotkin H, Ward L, Travers R, Roughley P, et al, Type V osteogenesis imperfecta: A new form of brittle bone disease. J Bone Miner Res 2000;15:1650-8. | |
| Glorieux FH, Bishop NJ, Plotkin H, Chabot G, Lanoue G, Travers R. Cyclic administration of pamidronate in children with severe osteogenesis imperfecta. N Engl J Med 1998;339:947-52. | |
| Kelly M, Evelyn B. Encyclopedia of Human Genetics and Diseases. J Bone Miner Res 2014;27:1524-30. | |
| Dwan K, Phillipi CA, Steiner RD, Basel D. Bisphosphonate therapy for osteogenesis imperfecta. J Bone Miner Res 2012;14:1645-48. | |
| Harrington J, Sochett E, Howard A. Update on the evaluation and treatment of osteogenesis imperfecta. Pediatr Clin North Am 2014;61:1243-57. | |
| Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979;16:101-16. | |
| Shapiro JR, Lietman C, Grover M, Lu JT, Nagamani SC, Dawson BC, et al. Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation. J Bone Miner Res 2013;28:1523-30. |
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Bilateral fractures of acetabulum in a young girl with osteogenesis imperfecta and epilepsy
Why does iron deficiency cause blue sclera?
What conditions are associated with blue sclera? – Blue sclera is seen in other conditions. It has been reported in osteogenesis imperfecta, rheumatoid arthritis, myasthenia gravis, inherited disorders of connective tissue and collagen disorders (e.g.
- Ehlers-Danlos syndrome, pseudoxanthoma elasticum), incontinentia pigmenti, high myopia, minocycline therapy and long-term steroid therapy but appears relatively rare in these conditions.
- Its pathogenesis is thought to involve thinning of the collagen fibers of the sclera due to iron deficiency, which allows the bluish color of the underlying uvea to become visible.
In vitro studies have shown that fibroblasts in culture do not synthesize collagen when iron is not available. It is therefore hypothesised that collagen synthesis is impaired in patients with iron deficiency resulting in thin sclerae through which the choroid can be seen, making the sclerae appear blue.
What does the white of your eyes say about your health?
How it can show in the eyes – Yellow whites of the eyes The white portion of the eye is known as the sclera. Healthy eye tissue should be white. Yellowing of the eyes is known as jaundice and can be a sign of serious liver disease. Jaundice is a sign of high levels of bilirubin, which the liver makes when it’s inflamed or damaged.
How common is blue sclera?
Blue scleras are very uncommon. You are truly a rare find! The white of our eyes, also known as the sclera, serves as a protective outer coat. It is a tough, leather-like tissue that surrounds the entire eye. The white sclera takes on a bluish tint when this normally thick tissue thins.
- The sclera becomes translucent, allowing the underlying tissue to show through.
- There are lots of reasons someone can have blue “whites”.
- Anything that results in a thinning of the sclera could cause it.
- For example, some medications, like steroids, can produce blue sclera.
- Not having enough iron in your blood (anemia) and aging have also been shown to give a blue tint to the whites of the eye.
While most cases of sclera discoloration are benign, they can sometimes be a sign of something more serious like Osteogenesis Imperfecta, Ehlers-Danlos Syndrome, Russell Silver Syndrome, Pyknodysostosis, Hallermann- Schermann-Streiff syndrome and Marfan Syndrome,
- It is important to note that all of these diseases are extremely rare and have other obvious symptoms as well.
- Anyone with a blue sclera may want to see an ophthalmologist to rule out these possibilities.
- Osteogenesis imperfecta are one potential cause of blue sclerae.
- Image from Wikipedia ) As you indicated in your question, one extremely rare cause of blue sclera is Osteogenesis Imperfecta, or Brittle Bone Disease.
Only 1 in of every 10,000 people has this rare disease. As you may guess from its name, patients with Brittle Bone Disease have fragile bones that break easily. The condition is caused by problems with a crucial protein called collagen. Collagen provides the internal scaffolding of our bodies, giving us shape and support.
- It can be likened to the iron beams that hold up a building.
- Faulty collagen leads to many problems for our body.
- There are actually four types of Brittle Bone Disease whose symptoms range from mild to severe.
- Type I is the most common and, fortunately, the mildest.
- Not all patients have the same symptoms, but they usually have several of the most common.
Blue sclera, easily fractured bones, curvature of the spine, brittle teeth, short height, and hearing loss are all frequently seen. Types II, III, and IV are more severe than Type I and even less frequent. For instance, Type II is so severe, that these children die before or soon after birth.
Now, if I read your question correctly, your concern is that if someone’s eyes have a bluish tint to them, then they may be a carrier for a disease like Brittle Bone Disease. What is a carrier? Remember, we have two copies of most of our approximately 25,000 genes, one from mom and one from dad. For a lot of diseases, you need two “bad” copies to end up with the disease, one from each parent.
These are called recessive diseases, A carrier is someone who has one “good” copy and one “bad” copy of a disease-related gene. They do not have the disease themself but could pass it along to their kids. This is what it means to be a carrier. Other diseases only need one “bad” copy.
This is the situation with most cases of Brittle Bone Disease. BBD is a dominant disease, Brittle Bone Disease is caused by a mutation in one of the two genes that make that important collagen protein, Col1A1 or Col1A2. If someone has a single “bad” copy of either of these genes, they have the disease.
Because of this, they also have a 50% chance of passing it down to their kids. Where does the 50% number come from? Well, which of the two copies of a gene gets passed down to our kids is random. Since there are two copies, then there is a 1 in 2, or 50%, chance that the disease version will be passed on.
- What if two people with BBD have kids? Then the chances of their children being affected goes up to 75%.
- As you can see, diseases that need two “bad”copies of a gene (recessive diseases) can stay hidden in our gene pool through “carriers”.
- This is not true of diseases caused by a single “bad” copy (dominant diseases).
In a dominant disease (left), you only need to inherit one “bad” copy to have the disease. In recessive diseases (right), you need to inherit two “bad” copies to have the disease. Osteogenesis imperfecta is a dominant disease. (Image from Wikipedia ) You may wonder how the mutations for these rare dominant diseases stick around.
Why aren’t they purged over time? There are actually a couple good reasons. With some diseases, symptoms don’t appear until later in life. Individuals often pass along their “bad” gene to their children before they even know they have the disease themselves. Huntington’s Disease is a classic example of this.
Symptoms usually start cropping up between the ages of 30 and 45, sometimes even later. This is also true for some cases of Parkinson’s, a disease we hear much of in the news due to the efforts of Michael J. Fox. However, recent advancements are changing genetics.
- Genetic testing and pre-implantation embryo screening for some diseases can give people the choice not to pass on their “bad” genes.
- Sometimes, mutations in our genes seemingly pop up out of nowhere.
- There is no family history of the disorder in these cases.
- This is called spontaneous mutation.
- What happens is that the DNA gets changed in either the sperm or the egg and is passed onto the child.
These changes can come from things in our environment or through mistakes our bodies make when it makes new DNA. About 25% of children with Brittle Bone Disease can blame spontaneous mutations for their disorders. It is important again to stress that anyone with blue sclera should see a doctor to rule out these rare diseases.
What do jaundice eyes look like?
Urgent advice: Get advice from 111 now if: –
your skin or the white part of your eyes looks yellow
You may also have itchy skin, darker pee and paler poo than usual.111 will tell you what to do. They can arrange a phone call from a nurse or doctor if you need one. Go to 111.nhs.uk or call 111, Other ways to get help Ask your GP practice for an urgent appointment. 
Your skin may turn yellow with jaundice. 
The white part of your eyes may look yellow with jaundice. 
Yellowing of the skin from jaundice may be less noticeable if you have brown or black skin, but you may notice the white part of your eyes looks yellow.
Why are my eyes not bright white?
Causes of dull eyes – Dull eyes are not usually a serious problem, as they’re generally caused by lifestyle factors, like too much screen time or too many late nights. However, they could also be a natural side effect of ageing or a medical condition:
Ageing As we get older we tend to lose collagen around our eyes, which can make the skin darker and more wrinkled. This is a completely natural process and needn’t be a cause for concern. Hormonal changes The menopause, or other times where hormonal balances dramatically change, can also cause eyes to appear dull. Eye diseases or changes in vision Eye problems like cataracts or corneal ulcers don’t just impact our ability to see, but also the appearance of our eyes. As a result, eyes can lose their natural brightness. Other medical conditions Jaundice, diabetes, cancer and other illnesses can also result in symptoms that affect the whiteness of your eyes.
While dull eyes are a fairly common occurrence, consult your healthcare professional if symptoms persist as this may be a sign of an underlying healthcare condition. 
If your eyes are looking lacklustre, try these tips to help restore their sparkle:
Home remedies Placing chilled tea bags or cucumber slices onto closed eyelids are thought to help restore the eye’s natural brightness. Use a specialist eye care product Brightening eye drops can help revive eyes by making them look whiter. feature natural plant extracts of euphrasia and chamomile, known for their brightening, reviving and soothing properties. They are pH balanced to the eye’s tear fluid, so as not to sting on application.
After using the product, dull eyes caused by your lifestyle should look visibly brighter and feel more comfortable. Note that dull eyes caused by an underlying medical condition will require specific treatment recommended by a healthcare professional. Please get in touch with your doctor if symptoms persist.
What bone disease causes blue sclera?
Ocular Manifestations – Osteogenesis imperfecta is predominantly known as a bone disease that can also have systemic manifestations. Blue sclera is the most commonly known ocular sign for osteogenesis imperfecta and it is caused by thin scleral collagen allowing the underlying darker choroid vasculature to be seen.
Patients with OI have shown a reduction in thickness of the corneal and scleral collagen fibers which can result in low ocular rigidity. OI patients may also have thin corneas, small corneal diameters, and keratoconus; however corneal ruptures are rare. Due to the significant impact of a corneal rupture or open globe, caution is always recommended in patients with connective tissue disorders, such as osteogenesis imperfecta.
A study by Ganesh et al. identified that children with OI had an increased risk for developing retinal hemorrhage and subdural trauma after minor injury. Lagrou et al. further studied children with OI and found they had altered corneal structure and biomechanics.
- These children had decreased central corneal thickness, decreased corneal resistance factor and had a corneal compensation IOP significantly higher in OI cases than in the control group.
- Given this study, patients with OI should be monitored by an ophthalmologist for high IOP, development of glaucoma and other corneal pathologies.
Type I collagen plays a significant role in the normal aqueous humor outflow and optic nerve function. It can be found in the trabecular meshwork (TM), uveoscleral pathway and the optic nerve. If there is a decrease in type I collagen in the TM, there can be an increase in the aqueous outflow resistance which can increase intraocular pressure.
Similar effects would occur with decreased type I collagen in the uveoscleral pathway. As type I collagen is also found in the optic nerve head and lamina cribosa, these regions combined with possible elevated IOP can result in the optic nerve being more susceptible to damage. In the recent report by Feinstein et al.
the OI population was surveyed from 2006-2013 to report any eye conditions. Of the patients that participated in the survey, the most common eye conditions were loss of vision and refractive errors. Other reported ocular conditions found in literature include glaucoma, cataract, keratoconus, macular degeneration, scleromalacia, floaters, retinal or vitreous hemorrhage, amblyopia, light sensitivity, retinal tears or detachments, poor eyelid closure, chorioretinitis, papilledema, and retinal thinning, congenital Bowman’s layer agenesis, choroidal neovascularization, optic neuropathies and atrophy.
Can stress cause blue under eyes?
Who do dark circles under the eyes affect? – Dark circles under the eyes affect people of all ages, races and sexes. All can show varying levels of dark circles too. Dark circles under the eyes are more common in certain groups of people, though. These groups include:
Elderly people. People with a family history of dark circles under their eyes. People with darker skin tones.
Dark circles under your eyes can happen for many reasons. One of the most common causes of dark circles is aging. As you age, the below your eyes begins to loosen and thin out so the blood vessels under your skin may become more visible. This can darken the appearance of your under eyes.
Genetics: Studies have shown that dark circles under your eyes may run in families. Dermatitis: and can cause the blood vessels under your eyes to dilate and show through your skin. Rubbing your eyes: Rubbing and scratching your eyes can cause your under eyes to swell and your to break. Lack of sleep: Poor sleeping habits cause the skin under your eyes to appear pale. Your blood vessels can easily show through your skin. : Too much exposure to the sun triggers your body to make more melanin. Melanin is the substance (pigment) that gives your skin its color. : The skin under your eyes can start to look dull when you don’t drink enough water. Lifestyle factors: Other factors such as stress, and smoking can cause dark circles under your eyes.
There are many things you can do at home under your eyes. Home remedies may include:
Get more sleep: Try to get at least seven hours of each night to prevent shadows from appearing around your eyes. Use more pillows: Elevate your head with a couple of extra pillows to prevent fluid from collecting under your eyes at night. This may help with puffiness. Cold compress: Apply cold spoons to your eyes to help shrink dilated blood vessels. This can reduce and the appearance of dark circles. Cucumbers: Lay cucumber slices on your eyes. This can help with puffiness because cucumbers are full of water and vitamin C. Teabags: Place cold tea bags under your eyes. This can increase circulation because tea contains and antioxidants. Facials: Facials that include massage around the eye area can help improve circulation. Makeup: Use an under-eye concealer and makeup foundation to blend the color of your skin to cover your dark circles.
Are you born with blue sclera?
– From very first eye contact, you were mesmerized by your baby’s eyes — and every other trait, too. If you were startled to see blue eyes staring back at you, we hope we’ve eliminated some of the surprise you might otherwise experience later if those same eyes are brown.
- Melanin determines several aspects of our appearance.
- And while we have the least amount when we enter the world for the first time, remember that babies may be born with eyes of blue, brown, hazel, green, or some other color.
- It’s simply a myth that all of us — or most of us, for that matter — are blue-eyed at birth.
As with everything else involving your newborn, enjoy each stage as it comes — yes, even the ” terrible twos ” — and know that eye, skin, and hair color will become things that make your child uniquely beautiful.
What percentage of people have blue sclera?
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1. Only 8 Percent of the World’s Population Has Blue Eyes If you have got blue eyes, you might just belong to one of the world’s most exclusive groups without realising it! Since blue eyes are genetically recessive, only 8 percent of the world’s population has blue eyes.
While blue eyes are significantly less common than brown eyes worldwide, they are frequently found from nationalities located near the Baltic Sea in northern Europe.2. There is No Blue Pigment in Blue Irises The colour of our eyes depends on how much melanin is present in the iris. Blue eyes get their colour the same way water and the sky get their blue colour — they scatter light so that more blue light reflects back out.
The iris is made up of two layers. For almost everyone — even people with blue eyes — the back layer (called the pigment epithelium) has brown pigment in it. The front layer of the iris (called the stroma) is made up of overlapping fibers and cells. For people with brown eyes, some of the cells also have brown pigment in them.
- If there is no pigment at all in this front layer, the fibers scatter and absorb some of the longer wavelengths of light that come in.
- More blue light gets back out and the eyes appear to be blue.3.
- Blue Eyes are More Sensitive to Light Melanin in the iris of the eye appears to help protect the back of the eye from damage caused by UV radiation and high-energy visible “blue” light from sunlight and artificial sources of these rays.
Since blue eyes contain less melanin than green, hazel or brown eyes, photophobia is more prevalent in blue eyes compared to darker coloured eyes. For these reasons, having less melanin in your irises means that you need to protect your eyes more from the sun’s UV rays.
- Therefore, it is recommended to those with blue eyes to stay out of the sun for long periods of time and try to wear protective eyewear when you are outdoors.4.
- All Blue-Eyed People May Have A Common Ancestor Originally we all had brown eyes, however, according to researchers at the University of Copenhagen, it appears that a genetic mutation in a single individual in Europe 6,000 to 10,000 years ago led to the development of blue eyes.
Therefore, we can conclude that this genetic mutation is the cause of eye colour of all blue-eyed humans alive on the planet today. What is the genetic mutation? A genetic mutation affecting the OCA2 gene in our chromosomes resulted in the creation of a “switch”, which “turned off” the ability to produce brown eyes.
The OCA2 gene codes for the ‘P protein’, which is involved in the production of melanin (the pigment that determines the colour of our eyes, skin and hair). The “switch”, does not, however, turn off the gene entirely, but rather limits its action to reducing the production of melanin in the iris – effectively “diluting” brown eyes to blue.
According to Hans Eiberg, associate professor in the Department of Cellular and Molecular Medicine from the University of Copenhagen, “From this, we can conclude that all blue-eyed individuals are linked to the same ancestor. They have all inherited the same switch at exactly the same spot in their DNA.” 5.
Blue Eyes at Birth Doesn’t Mean Blue Eyes For Life While blue eyes may be rare, they’re among the most common eye colours at birth. Since the human eye does not have its full adult amount of pigment at birth, most Caucasian babies are born with blue eyes. However, since human melanin tends to develop over time — this causes the child’s eye colour to change as more melanin is produced in the iris during early childhood.6.
People With Blue Eyes May Have a Higher Risk of Alcoholism A new study suggests that individuals with blue eyes are at a higher risk for alcohol dependency compared to those with darker eyes. Therefore, this finding adds further evidence to the idea that alcoholism has a genetic component.
- A study published in American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics found that European Americans with blue eyes had up to 83 percent higher odds of becoming dependent on alcohol, compared with matched controls who had darker eye colours.
- This research suggests that alcoholism has a genetic component linked to genetic sequences that determine eye colour, which may help explain the association.
However, at this stage, the reason for the correlation is still unknown and further research is required to fully understand this correlation in the findings.7. You Can’t Predict the Colour of Your Child’s Eyes Since it was once believed that eye colour — including blue eyes — was a simple genetic trait, many people used to believe that blue-eyed people could only have blue-eyed children.
Before geneticists fully understood how human eye colour inheritance works, a child’s eye colour to used be used as a paternity test — based on the assumption that you could predict a child’s eye colour if you knew the colour of the parents’ eyes and perhaps the colour of the grandparents’ eyes. But geneticists now know that this concept is far more complicated, as eye colour is influenced by an interaction of as many as 16 different genes — not just one or two genes as once thought.
Additionally, the anatomic structure of the iris can also influence eye colour to some degree. In summary, it’s impossible to know for sure if your children will have blue eyes. Even if you and your partner both have blue eyes, that’s no guarantee your child’s eyes will also be blue.
Are blue eyes harmful?
5. Blue eyes come with a few risks – Melanin in the iris appears to help protect the back of the eye ( retina ) from damage caused by the UV radiation and high-energy visible blue light that comes from the sun and some artificial sources. Because blue eyes contain less melanin than most other eye colors, they may be more at risk of certain damage.
A higher risk of ocular uveal melanoma (a type of eye cancer ) A lower risk of developing cataracts No difference in the risk of developing age-related macular degeneration
Since many people with blue eye color are more sensitive to light and may have a higher risk of retinal damage from UV rays, eye doctors often recommend that people with blue eyes be a little more cautious about their exposure to sunlight. Eye damage from UV and blue light appears to be related to your lifetime exposure to these rays, so wearing sunglasses that block 100% UV (and most blue light) should start during childhood, when possible.
What does a healthy sclera look like?
The white part of the eye, called the sclera, is a protective layer that covers more than 80% of the eyeball’s surface. A healthy sclera is white. But what does it mean when the sclera takes on a different hue? If your whites become yellow, like Michael Jordan’s eyes in ‘The Last Dance,’ or otherwise discolored, consult with your ophthalmologist.