What can we learn from molecular genetic analyses of inherited eye diseases?
Over the past decade, the pace of gene identification of the causes of inherited eye diseases has increased dramatically as the complete human genome information becoming available. Molecular genetic analysis establishes reliable clinical diagnostic criteria and improves the accuracy of diagnosis. We encountered two atypical cases, a patient who had only bilateral band-shaped opacities without any gelatinous prominences, and a patient who had diffuse central corneal stromal opacity without any lattice lines. The diagnosis of gelatinous drop-like dystrophy and lattice corneal dystrophy I was confirmed by molecular genetic analysis of TACSTD2 and TGFBI, respectively. We confirmed the existence of a predominantly ocular type of stickler syndrome by identifying the mutation involving exon 2 of the COL2A1 gene in a Japanese patient who had received a diagnosis of rhegmatogenous retinal detachment. We surmise that in Japan in the past, this diagnosis may have been overlooked or misdiagnosed