ABSTRACT
A 47-year-old lady (index case) with diabetes and deafness showed multiple oval circumferential areas of perifoveal atrophy in both eyes. Autofluorescence revealed areas of hypoautofluorescence. Optical coherence tomography (OCT) showed depression of inner retinal surface, inner retinal hyporeflective spaces (pseudocysts), disorganization/thinning of outer retina, outer retinal tubulation, loss of external limiting membrane, ellipsoid and interdigitation zone, and thinning of the retinal pigment epithelium and choriocapillaris. The patient was evaluated using OCT angiogram. Retinal lesions of her mother (68-year-old) were very obvious on autofluorescence imaging. The result of A3243G mutation in MTTL1 gene was positive in the index case confirming the diagnosis of maternally inherited diabetes and deafness (MIDD).
ABSTRACT
PURPOSE: To report a rare case of Sjögren's reticular retinal dystrophy. CASE SUMMARY: A 54-year-old male presented with blurred vision and metamorphopsia in both eyes since a few years prior to his initial visit. There was a bilateral reticular network of yellow deposits throughout the posterior pole on fundus examination, which was hyperautofluorescent in fundus autofluorescence photographs. The pigment alterations were more visible with fluorescein angiography, which showed hypofluorescent lesions with hyperfluorescent borders. Spectral-domain optical coherence tomography showed elevations of the outer retina associated with the presence of subretinal hyperreflective material. Based on the conclusive correlation with clinical features, we diagnosed Sjögren's reticular retinal dystrophy. CONCLUSIONS: Sjögren's reticular retinal dystrophy is characterized by its specific pigment changes at the level of clinical manifestations and the retinal pigment epithelium. In cases of Sjögren's reticular retinal dystrophy, close monitoring is required because it has a lifetime risk of choroidal neovascularization.