Mohammad Almazyead, Abdullmajeed S Alfakhri, Sulaiman M Alsulaiman
{"title":"LRPAP1相关性近视中的儿童近视眼窝畸形。","authors":"Mohammad Almazyead, Abdullmajeed S Alfakhri, Sulaiman M Alsulaiman","doi":"10.4103/meajo.meajo_151_23","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":18740,"journal":{"name":"Middle East African Journal of Ophthalmology","volume":"30 3","pages":"182-184"},"PeriodicalIF":0.5000,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11495285/pdf/","citationCount":"0","resultStr":"{\"title\":\"Childhood Myopic Foveoschisis in LRPAP1-associated Myopia.\",\"authors\":\"Mohammad Almazyead, Abdullmajeed S Alfakhri, Sulaiman M Alsulaiman\",\"doi\":\"10.4103/meajo.meajo_151_23\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":18740,\"journal\":{\"name\":\"Middle East African Journal of Ophthalmology\",\"volume\":\"30 3\",\"pages\":\"182-184\"},\"PeriodicalIF\":0.5000,\"publicationDate\":\"2024-09-13\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11495285/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Middle East African Journal of Ophthalmology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4103/meajo.meajo_151_23\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/7/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q4\",\"JCRName\":\"OPHTHALMOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Middle East African Journal of Ophthalmology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/meajo.meajo_151_23","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/7/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
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.
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.