Natural history and biomarkers of retinal dystrophy caused by the biallelic TULP1 variant c.148delG.

Anna Majander,Eeva-Marja Sankila,Aura Falck, Laura Kristiina Vasara,Sanna Seitsonen, Maarit Kulmala, Anna-Kaisa Haavisto,Kristiina Avela,Joni A Turunen

Acta ophthalmologica（2023）

引用 3|浏览4

暂无评分

摘要

This study describes the progression of TULP1 IRD suggesting a potential time window for therapeutic interventions. The width of the foveal EZ and the thickness of the foveal OPL-ONL layers could serve as biomarkers of the disease stage.

查看译文

关键词

TULP1 ,Leber congenital amaurosis,early-onset inherited retinal dystrophy,nystagmus,tubby-like protein 1

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