Cataract-Microcornea Syndrome

Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism.

Epidemiology

To date, more than 15 families showing microcornea-cataract syndrome have been described.

Clinical description

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).

Etiology

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).

Diagnostic methods

Ophthalmologic and general examination allows other syndromes to be excluded.

Genetic counseling

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.

Prognosis

Visual acuity after uncomplicated cataract extraction is relatively good.