Conditions
Brittle cornea syndrome (BCS)
A rare condition in which the clear front of the eye is very thin and can tear easily, often with blue-tinted eye whites.
About Brittle cornea syndrome
Brittle cornea syndrome (BCS) is a rare condition and one of the types of Ehlers-Danlos syndrome. A child gets it when a gene change in ZNF469 or PRDM5 comes from both parents.
The main concern is the cornea, the clear front window of the eye. It is very thin and can tear, sometimes after only a small bump and sometimes with no injury. The cornea may also bulge into a cone or round shape (keratoconus or keratoglobus). The whites of the eyes often look blue. Some people also have hearing loss, hip problems at birth, a curved spine, loose finger joints, or soft, thin skin.
A clinical geneticist usually makes the diagnosis, often working with an eye doctor. Tests include an eye exam that measures how thick the cornea is, a hearing test, and a genetic test.
Before a visit, it helps to record eye problems and eye injuries, and to save eye exam and hearing test reports. Hip and spine problems, and relatives with similar eye problems, are useful too.
Who usually evaluates it: Usually a clinical geneticist, often working with an eye doctor (ophthalmologist) and a hearing specialist.
What you can record in Selihc Health
- Eye problems and eye injuries, and when they started
- Eye exam reports about the cornea, and hearing test reports
- Hip problems at birth, a curved spine, and low muscle tone as a baby
- Flat feet or bunions, fingers that stay bent, and soft, thin skin
- Your own check of the color of your eye whites, your fingers and how far your joints bend, labeled as self-reported
- Genetic test reports, with the genes they name
- Relatives with similar eye problems
What only a clinician can do
- Measuring how thick the cornea is and examining the eyes
- Hearing and eardrum testing
- Examining the joints, skin and fingers
- Deciding on genetic testing of ZNF469 and PRDM5, and explaining the result
In an emergency
Get emergency eye care right away, or call 911, if an eye is hit or hurt, or for sudden eye pain, sudden blurry vision, loss of vision, or fluid leaking from the eye. Do not press or rub an injured eye.
The published criteria
Your summary organizes your records against these sources, for your clinician to review. What clinicians see
Brittle cornea syndrome: 2017 international classification
Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017;175(1):8-26. doi:10.1002/ajmg.c.31552
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This page is general information written for patients, not medical advice. Content is a draft awaiting clinical review.
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