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

Abstract

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: Of 1325 patients evaluated, 862 (65%) underwent genetic testing. Inherited retinal disorders were the most common (n = 440, 51%), followed by cornea and anterior segment disorders (n = 107, 12.4%). Other conditions included hereditary optic nerve disorders (n = 75, 8.7%), glaucoma (n = 70, 8.1%), lenticular disorders (n = 54, 6.3%), phacomatoses (n = 25, 2.9%), ocular tumours (n = 20, 2.3%), strabismus and albinism (n = 19 and 18; ~2% each), MAC spectrum disorders (n = 10, 1.4%), and systemic syndromes (n = 22, 2.5%). Diagnostic yield was achieved in 605 (70%), while 257 (30%) remained inconclusive. Of the 463 untested families, the motivations were unascertained reasons (n = 156, 33%), financial constraints (n = 138, 30%), intent to test later (n = 90, 19%), and belief that no treatment was available (n = 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.