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Article

Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease.

BioMed research international - 1 Jan 2015

Battu Rajani, Verma Anshuman, Hariharan Ramesh, Krishna Shuba, Kiran Ravi, Jacob Jemima, Ganapathy Aparna, Ramprasad Vedam L, Kumaramanickavel Govindasamy, Jeyabalan Nallathambi, Ghosh Arkasubhra

Abstract excerpt

Stargardt disease (STGD) is the leading cause of juvenile macular degeneration associated with progressive central vision loss, photophobia, and colour vision abnormalities. In this study, we have described the clinical and genetic features of Stargardt patients from an Indian cohort. The next generation sequencing was carried out in five clinically confirmed unrelated patients and their family members using a...

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Identifiers

PMID: 25922843
DOI: 10.1155/2015/940864
PMCID: PMC4398921

Genes

ABCA4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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