Blue sclerae and keratoglobus. Ocular signs of a systemic connective tissue disorder.

Ocular signs of a systemic connective tissue disorder

A 4-year-old girl was referred to the department of ophthalmology of the Rothschild Hospital, Haifa, because of a blue discoloration of the sclerae from birth, bulging of the eyes which had been first noticed at the age of4 months, and apparent short sight. The child was the product of a normal pregnancy and a normal full-term delivery. The birth weight was 3-6 kg. There had been three episodes...

Blue sclerae with keratoglobus and brittle cornea.

Glaucoma in the Hallermann-Streiff syndrome.

The Hallermann-Streiff syndrome is a complex association of developmental anomalies principally involving structures of ectodermal origin. The constant expressions of the syndrome are dyscephaly with mandibulo-facial malformation, bilateral congenital cataracts, and dental anomalies, while hypotrichosis, cutaneous atrophy, microphthalmos, and proportionate dwarfism are frequently present (Table...

Alport's syndrome with blue sclera.

An Indian case of Alport's syndrome who had association of keratoglobus and blue sclerae is described.

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

Brittle cornea syndrome (BCS; MIM 229200) is an autosomal recessive generalized connective tissue disorder caused by mutations in ZNF469 and PRDM5. It is characterized by extreme thinning and fragility of the cornea that may rupture in the absence of significant trauma leading to blindness. Keratoconus or keratoglobus, high myopia, blue sclerae, hyperelasticity of the skin without excessive fra...