Further evidence that a specific homozygous

• Tác giả: Arif O Khan
• Ngôn ngữ: eng
• Ký hiệu phân loại: 037.8 General encyclopedic works in other Slavic languages
• Thông tin xuất bản: England : Ophthalmic genetics , 2025
• Bộ sưu tập: NCBI
• ID: 700724

Tóm tắt

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: METHODS: Retrospective case series (2018-2023) of children homozygous for the gene mutation RESULTS: All 5 identified affected children had been referred for reduced vision and had bilateral central macular scars. Three children (2 families) were originally diagnosed with presumed prior ocular toxoplasmosis infection. All 5 children have stable ophthalmic finding over 5-6 years of follow-up. Although other