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PRPH2-ASSOCIATED RETINAL DISEASES: A SYSTEMATIC REVIEW OF PHENOTYPIC FINDINGS
American Journal of Ophthalmology ( IF 4.1 ) Pub Date : 2024-11-06 , DOI: 10.1016/j.ajo.2024.10.025
Shadi M. AlAshwal, Shaden H. Yassin, Fritz Gerald P. Kalaw, Shyamanga Borooah

PRPH2-associated retinal diseases (PARD) result from pathogenic PRPH2 variants, primarily affecting photoreceptor outer segments and retinal pigment epithelium. The focus of this article is to review and discuss the phenotyping of PARD subtypes.

中文翻译:


PRPH2 相关视网膜疾病:表型发现的系统评价



PRPH2 相关视网膜疾病 (PARD) 由致病性 PRPH2 变异引起,主要影响光感受器外段和视网膜色素上皮。本文的重点是回顾和讨论 PARD 亚型的表型。
更新日期:2024-11-06
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