Fleck-like lesions in CEP290-associated leber congenital amaurosis: a case series.

Tomas S Aleman,Erin C O'Neil,Katherine E Uyhazi, Kelsey M Parchinski, Arlene J Santos,Mariejel L Weber, Sherice P Colclough, Andrew S Billek,Xiaosong Zhu,Bart P Leroy,Emma C Bedoukian

Ophthalmic genetics（2022）

引用 0|浏览9

暂无评分

摘要

We speculate that fleck-like lesions in correspond to malformed, rudimentary or degenerated, including shed, photoreceptor outer segments. The topography and possible origin of the abnormalities may inform the planning of evolving genetic therapies for this disease.

查看译文

关键词

CEP290,Flecks,Joubert syndrome,LCA10,OCT,leber congenital amaurosis,marbleized

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要