Ocular Histopathology and Immunohistochemical Analysis in the Oldest Known Individual with Autosomal Dominant Vitreoretinochoroidopathy

Ophthalmology Retina
Morton F GoldbergGerard A Lutty

Abstract

To assess the immunohistochemical and histopathological changes in a subject with Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC). Case study. Ninety two year-old Caucasian male with ADVIRC. The subject was documented clinically for 54 Years. The retina/choroid complex of the right eye was evaluated with cryosections stained with hematoxylin and eosin or periodic acid schiff reagent. Cryosections were also evaluated with immunofluorescence or alkaline phosphatase immunohistochemistry (IHC) using primary antibodies against bestrophin1, GFAP, PEDF, RPE65, TGFβ, VEGF, and vimentin. The left retina and choroid were evaluated as flat mounts using immunofluorescence. UEA lectin was used to stain viable vasculature. The immunohistochemical and histopathological changes in retina and choroid from a subject with ADVIRC. The subject had a heterozygous c.248G>A variant in exon 4 of the BEST1 gene. There was widespread chorioretinal degeneration and atrophy except for an island of spared RPE monolayer in the perimacula/macula OU. In this region, some photoreceptors were present, choriocapillaris was spared, and retinal pigment epithelial cells were in their normal disposition. There was a Muller cell periretinal membrane throughout m...Continue Reading

Citations

Jul 17, 2020·Frontiers in Cell and Developmental Biology·Mi ZhouJeffrey M Sundstrom
Jul 9, 2020·Frontiers in Cell and Developmental Biology·Mi ZhouJeffrey M Sundstrom
Jan 1, 2021·Toxicologic Pathology·Anantharaman MuthuswamyOlulanu H Aina
Jul 23, 2021·Progress in Retinal and Eye Research·Raphael LejoyeuxJay Chhablani

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