A 3-year-old boy presented with acute corneal
hydrops on the left eye and spontaneous corneal
rupture on the right eye. A diagnosis of
brittle cornea syndrome was confirmed by molecular analysis. A novel mutation, the homozygous variant c.17T>G, p.V6G, was found in the gene for PR-domain-containing
protein 5 (PRDM5) in exon 1.
Brittle cornea syndrome is a rare
connective tissue disease with typical ocular, auditory, musculoskeletal, and cutaneous disorders. Almost all patients suffer from declined vision due to corneal
scarring, thinning, and
rupture. The most common ophthalmologic findings include
keratoconus, progressive central corneal thinning, high
myopia, irregular
astigmatism,
retinal detachment, and high risk for spontaneous corneal or scleral
rupture. In addition to describing the case with a novel mutation here we review the current literature on
brittle cornea syndrome pathogenesis, clinical findings, and
therapy.