Leber congenital amaurosis: A clinical and genetic study from a tertiary eye care center

Leber congenital amaurosis: A clinical and genetic study from a tertiary eye care center

Purpose: To assess the clinical phenotypes and genetic mutations in patients with Leber congenital amaurosis (LCA) from a tertiary eye care center in India. Design: Retrospective observational study. Methods: The study includes patients with a clinical diagnosis of LCA who underwent genetic testing...

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Main Authors: Abhishek Upadhyaya, Srikanta Kumar Padhy, Nithin Teja, Goura Chattannavar, Shreya Dutta, Venkatesh Pochaboina, Jeyapoorani Balasubramanian, Chitra Kannabiran, Brijesh Takkar, Manjushree Bhate, Subhadra Jalali, Deepika C Parameswarappa
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2025-05-01
Series:Indian Journal of Ophthalmology
Subjects:
genotype
india
lebers congenital amaurosis
phenotype
Online Access:https://journals.lww.com/10.4103/IJO.IJO_545_24
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https://journals.lww.com/10.4103/IJO.IJO_545_24

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