Peripherin/RDS gene mutation in a patient with choroidal neovascularization

PURPOSE: To diagnose an atypical retinal degenerative disease with choroidal neovascularization by means of gene diagnosis. CASE: A 47-year-old woman had good visual acuity at the first examination. She had scattered chorioretinal degeneration and pigmentation in the peripheral retina. There was a symmetrical visual field defect in the upper and temporal periphery in both eyes. Seven years later, choroidal neovascular membrane (CNV) developed in the fovea of her left eye and visual acuity deteriorated to 0.4 in this eye. Optical coherence tomography revealed type 2 CNV with minimal subretinal fluid. Fluorescein angiography showed very little leakage from the CNV. We used denaturing high performance liquid chromatography(DHPLC) to perform gene diagnosis and found a peripherin/RDS gene mutation of Gly167-Ser. CONCLUSION: Our case had moderate peripheral retinal degeneration with CNV. It is possible that cases like this tend to be misdiagnosed as AMD (age-related macular degeneration) or CNV with high myopia. Evaluation of the gene mutation was useful for diagnosis in this case.