Vitreoretinal Division and Uveitis Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
Middle East Afr J Ophthalmol. 2024 Sep 13;30(3):182-184. doi: 10.4103/meajo.meajo_151_23. eCollection 2023 Jul-Sep.
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.
本病例报告了一名高度近视患儿因 LRPAP1 纯合致病性变异而发生中心凹劈裂。一名 9 岁女孩因 LRPAP1 基因突变导致高度近视，右眼曾行视网膜脱离修复术，在随访中左眼出现进行性近视性中心凹劈裂，光学相干断层扫描显示。劈裂性改变进展为板层黄斑裂孔，需要玻璃体切割术。术后病情稳定。在 LRPAP1 致病性变异的隐性背景下，近视性中心凹劈裂可在儿童期发生。需要长期随访以确定早发性近视性中心凹劈裂的自然病程。
