Further evidence that a specific homozygous CLDN19 variant results in non-syndromic maculopathy and can be mistaken for prior ocular toxoplasmosis infection.

Abstract excerpt

INTRODUCTION: Round atrophic macular scars with a hyperpigmented rim in an otherwise healthy child are characteristic for prior ocular toxoplasmosis infection, the most common etiology of self-resolved retinitis in immunocompetent patients. However, a specific homozygous gene mutation (NM_148960: CLDN19:c.263T>A; p.Val88Glu) can result in a similar phenotype. METHODS: Retrospective case series (2018-2023) of...

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