Don’t fight Cataract microcornea syndrome alone.Find your community on the free RareGuru App.
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1377
Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism.
To date, more than 15 families showing microcornea-cataract syndrome have been described.
Clinical findings include a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye, and an inherited cataract, which is most often bilateral posterior polar with opacification in the lens periphery. The cataract progresses to form a total cataract after visual maturity has been achieved, requiring cataract extraction in the first to third decade of life. Microcornea-cataract syndrome can be associated with other rare ocular manifestations, including myopia, iris coloboma, sclerocornea and Peters anomaly (see this term).
There is marked genetic heterogeneity. Mutations have been described in several crystallin genes ( CRYAA , CRYBB1 , CRYGD ), and in the gap junction protein alpha 8 gene ( GJA8 ).
Ophthalmologic and general examination allows other syndromes to be excluded.
Transmission is in most cases autosomal dominant, but cases of autosomal recessive transmission have recently been described.
Management and treatment
Cataract surgery has to be performed in order to restore visual acuity and avoid amblyopia.
Visual acuity after uncomplicated cataract extraction is relatively good.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!