Dr.Koushik Tripathy, T16931
Aim-To report a family with maternally inherited diabetes and deafness (MIDD phenotype.
Method-Case reports.
Results-A 47-year-old lady had a family history of diabetes and deafness. She had diabetes, deafness and heart disease. Both eyes showed multiple oval circumferential areas of perifoveal atrophy with normal fovea. Autofluorescence revealed obvious areas of hypoautofluorescence. OCT showed depression of inner retinal surface, inner retinal hyporeflective spaces, disorganization of outer retina, thinning of outer nuclear layer, loss of external limiting membrane, ellipsoid and interdigitation zone, and thinning of the choriocapillaris. OCT angiogram at the level of choriocapillaris revealed large choroidal vessels. Retinal lesions of her mother (68-year-old), were very obvious on autofluorescence imaging. She also had diabetes and deafness. Result of A3243G mutation in MTTL1 gene is awaited.
Conclusion-Autofluorescence made the areas of involvement obvious in these cases.
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