BACKGROUND: Crystalline retinopathy is an infrequently encountered disorder characterized by reflective retinal crystalline deposits. The clinical findings of seven patients with crystalline retinopathy are documented. METHODS: Clinical features of crystalline retinopathy were studied retrospectively in seven patients, three of whom were followed up for 2 to 5 years. RESULTS: Six patients had a similar fundus appearance, that is, the reflective yellow deposits located mainly in the deep retina with retinal pigment epithelium atrophy throughout the posterior pole and mid-peripheral retina and with choriocapillaris atrophy at the posterior pole. However, the results from electroretinogram responses were markedly variable. Two of the patients showed marked electroretinogram functional impairment. In addition, other sibling patients only 3 years apart in age had different degrees of disease expression. CONCLUSION: There is considerable variability in functional manifestations among patients with crystalline retinopathy, even in intrafamilial cases.
BACKGROUND:Crystalline retinopathy is an infrequently encountered disorder characterized by reflective retinal crystalline deposits. The clinical findings of seven patients with crystalline retinopathy are documented. METHODS: Clinical features of crystalline retinopathy were studied retrospectively in seven patients, three of whom were followed up for 2 to 5 years. RESULTS: Six patients had a similar fundus appearance, that is, the reflective yellow deposits located mainly in the deep retina with retinal pigment epithelium atrophy throughout the posterior pole and mid-peripheral retina and with choriocapillaris atrophy at the posterior pole. However, the results from electroretinogram responses were markedly variable. Two of the patients showed marked electroretinogram functional impairment. In addition, other sibling patients only 3 years apart in age had different degrees of disease expression. CONCLUSION: There is considerable variability in functional manifestations among patients with crystalline retinopathy, even in intrafamilial cases.
Authors: Nicole M Fuerst; Leona Serrano; Grace Han; Jessica I W Morgan; Albert M Maguire; Bart P Leroy; Benjamin J Kim; Tomas S Aleman Journal: Ophthalmic Genet Date: 2016-03-30 Impact factor: 1.803