在LRPAP1相关的近视症中儿童近视
Mohammad Almazyead1, Abdullmajeed S Alfakhri2,3, Sulaiman M Alsulaiman2
1Vitreoretinal Division and Uveitis Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
Middle East African journal of ophthalmology
|October 24, 2024
概括
这项案例研究突出显示了患有罕见LRPAP1基因变异引起的高近视患者的童年foveoschisis. 在患有衰退性LRPAP1突变的儿童中,可以出现早期发病的近视性形,需要长期监测.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 是一个遗传学.
- 视网膜疾病 视网膜疾病
背景情况:
- 高近视是各种视网膜病理的重要危险因素.
- 衰退性基因突变可能导致早期发病的眼部疾病.
- 富含白的重复和Ig域含蛋白质甘氨酸相关蛋白1 (LRPAP1) 基因突变与遗传性视网膜疾病有关.
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