Leber congenital amaurosis: A clinical and genetic study from a tertiary eye care center
Genetic screening of LCA cases identified various genotypes, with GUCY2D being the most common. Increased awareness and reduced costs of genetic testing would benefit both patients and caregivers. With promising clinical trial outcomes, genotyping is crucial for better patient selection and treatment.
Authors
- Manjushree Bhate (ORCID: https://orcid.org/0000-0002-3826-3506)
- Srikanta Kumar Padhy (ORCID: https://orcid.org/0000-0002-6453-5851)
- Chitra Kannabiran (ORCID: https://orcid.org/0000-0001-8435-0320)
- Deepika C Parameswarappa (ORCID: https://orcid.org/0000-0002-5302-1070)
- Subhadra Jalali (ORCID: https://orcid.org/0000-0003-4157-0539)
- Abhishek Upadhyaya (ORCID: https://orcid.org/0000-0002-4087-957X)
- Brijesh Takkar (ORCID: https://orcid.org/0000-0001-5779-7645)
- Goura Chattannavar (ORCID: https://orcid.org/0000-0001-7825-4834)
- Jeyapoorani Balasubramanian
- Venkatesh Pochaboina
- Sangit Dutta (ORCID: https://orcid.org/0009-0008-2189-7562)
- Nithin Teja
Institutions
- L V Prasad Eye Institute (IN)
Publication Details
- Journal
- Indian Journal of Ophthalmology
- Published
- 2024-12-27
- DOI
- https://doi.org/10.4103/ijo.ijo_545_24
- Citations
- 2
- Primary Topic
- Ocular Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 1.10