ArticleIndian journal of ophthalmology2020
Outer retinal tubulation and inner retinal pseudocysts in a patient with maternally inherited diabetes and deafness evaluated with optical coherence tomography angiogram.
Article in Indian journal of ophthalmology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7 citing papers in PubMed, 11 citations in OpenAlex.
- Outer retinal tubulation associated with photoreceptor degeneration.Progress in retinal and eye research · 2026Review
- Multimodal single-cell analysis of nonrandom heteroplasmy distribution in human retinal mitochondrial disease.JCI insight · 2023Article
- Multimodal analysis in symptomatic MIDD-associated retinopathy. A case report and literature review.GMS ophthalmology cases · 2023Article
- Article
- Response to comments on: Outer retinal tubulation and inner retinal pseudocysts in a patient with maternally inherited diabetes and deafness evaluated with optical coherence tomography angiogram.Indian journal of ophthalmology · 2020Article
- Comments on: Outer retinal tubulation and inner retinal pseudocysts in a patient with maternally inherited diabetes and deafness evaluated with optical coherence tomography angiogram.Indian journal of ophthalmology · 2020Article
- Commentary: Heteroplasmy in maternally inherited diabetes and deafness.Indian journal of ophthalmology · 2020Article
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3 authors at 1 institution in 1 country.
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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).
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