LRPAP1相关性近视中的儿童近视眼窝畸形。

IF 0.5 Q4 OPHTHALMOLOGY Middle East African Journal of Ophthalmology Pub Date : 2024-09-13 eCollection Date: 2023-07-01 DOI:10.4103/meajo.meajo_151_23
Mohammad Almazyead, Abdullmajeed S Alfakhri, Sulaiman M Alsulaiman
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引用次数: 0

摘要

本病例报告了一名因 LRPAP1 基因同源变异而患有高度近视的儿童出现的眼窝裂伤。一名 9 岁女孩因 LRPAP1 基因同源突变而患有高度近视,右眼曾进行过视网膜脱离修复手术。裂孔病变演变为片状黄斑孔,需要进行玻璃体切除术。术后病情稳定。隐性 LRPAP1 致病变体可能会在儿童期出现近视性黄斑裂孔。需要进行长期随访,以确定早发近视眼窝沟封闭的自然史。
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Childhood Myopic Foveoschisis in LRPAP1-associated Myopia.

This case reports the development of foveoschisis in a child with high myopia due to a homozygous LRPAP1 pathogenic variant. A 9-year-old girl with high myopia due to a homozygous mutation in the LRPAP1 gene and a history of retinal detachment repair in her right eye, presented on follow-up with progressive myopic foveoschisis in the left eye noted on optical coherence tomography. The schitic changes evolved into a lamellar macular hole and required vitrectomy. Postoperatively, stabilization of the condition was achieved. Myopic foveoschisis could develop in childhood in the setting of recessive LRPAP1 pathogenic variants. Long_term follow-up is needed to determine the natural history of early-onset myopic foveoschisis.

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来源期刊
CiteScore
1.40
自引率
0.00%
发文量
1
期刊介绍: The Middle East African Journal of Ophthalmology (MEAJO), published four times per year in print and online, is an official journal of the Middle East African Council of Ophthalmology (MEACO). It is an international, peer-reviewed journal whose mission includes publication of original research of interest to ophthalmologists in the Middle East and Africa, and to provide readers with high quality educational review articles from world-renown experts. MEAJO, previously known as Middle East Journal of Ophthalmology (MEJO) was founded by Dr Akef El Maghraby in 1993.
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