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CASE REPORT
Year : 2020  |  Volume : 68  |  Issue : 1  |  Page : 250-253

Outer retinal tubulation and inner retinal pseudocysts in a patient with maternally inherited diabetes and deafness evaluated with optical coherence tomography angiogram


Department of Vitreoretina and Uvea, ICARE Eye Hospital and Postgraduate Institute, Noida, Uttar Pradesh, India

Correspondence Address:
Dr. Koushik Tripathy
Department of Vitreoretina and Uvea, ICARE Eye Hospital and Postgraduate Institute, E3A, Sector-26, Noida, Uttar Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_577_19

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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).


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