Brittle cornea syndrome

How is Brittle Cornea Syndrome (BCS) Inherited?

BCS is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. There is nothing either parent can do, before or during a pregnancy, to cause a child to have this condition.

People with BCS inherit one mutation from each of their parents. The parents, who each have one mutation, are known as carriers. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:

  • 25% chance to be affected
  • 50% chance to be an unaffected carrier like each parent
  • 25% chance to be unaffected and not a carrier

While carriers of genetic diseases often do not have symptoms, carriers of BCS may have mild vision and musculoskeletal symptoms. Both corneal thinning and myopia have been reported in carriers. As such, a referral to an ophthalmologist is recommended for people who are known to be carriers of BCS or who may be at risk to be carriers. Screening for hip dysplasia may also be recommended.

Last updated on 05-01-20

How might brittle cornea syndrome (BCS) be treated?

While there is no one treatment for BCS, certain measures to protect the eye and cornea may help prevent damage to the cornea, for example, use of special protective glasses. In instances of serious scarring and/or thinning, a corneal transplant or corneal graft may be attempted. While these procedures may not fully restore vision, they may help to avoid further corneal damage. Corneal cross-linking may also be an option to treat corneal thinning. This procedure involves using certain vitamins (B2) to try to strengthen the connective tissue in the cornea. Other symptoms including nearsightedness, retinal detachment, hearing loss, and problems in the musculoskeletal system are managed similarly to people with these concerns in the general population.

Last updated on 05-01-20

Selected Full-Text Journal Articles

Brittle cornea syndrome - articles

Burkitt Wright EMM, Porter LF, Spencer HL, Clayton-Smith J, Au L, Munier FL, Smithson S, Suri M, Rohrbach M, Manson FDC, Black GCM. Brittle cornea syndrome: recognition, molecular diagnosis and management. Orphanet J Rare Dis. 2013; 8:68.

Last updated on 04-27-20

Name: National Alliance for Eye and Vision Research (NAEVR) 1801 Rockville Pike, Suite 400
Rockville, MD, 20852, United States
Phone: 240-221-2905 Fax : 240-221-0370 Email: Url:
Name: Cornea Research Foundation of America 9002 N. Meridian Street, Suite 212
Indianapolis, IN, 46260, United States
Phone: 317-844-5610 Fax : 317-814-2806 Email: Url:
Name: Ehlers-Danlos Support UK PO Box 748
Borehamwood , WD6 9HU, United Kingdom
Phone: 0208 736 5604 Toll Free: 0800 907 8518 (in the UK) Email: Url:

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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