Clinical Spectrum and Insights from One Year of Ocular Genetics at a Single Tertiary Eye Care Centre

INTRODUCTION: Genetic testing benefits individuals and families with inherited eye diseases by facilitating accurate diagnosis, informing prognosis, enabling assessment for at-risk family members, and supporting targeted therapies. This study aimed to characterize the spectrum of inherited eye disorders and evaluate the diagnostic yield of genetic testing at a single tertiary eye care centre over a one-year period. METHODS: A retrospective review of patients attending the ocular genetics service at a tertiary eye care centre in India from January 1 to December 31, 2024, was conducted. RESULTS: = 79, 17%). DISCUSSION: Inherited retinal and anterior segment disorders constitute the most frequent genetic eye diseases. Genetic testing has enabled genotype-phenotype correlation in over two-thirds of cases. Financial constraints and limited availability of disease-modifying treatments remain key barriers for uptake of genetic testing.