Spectrum of inherited eye disorders at Hong Kong Children's Hospital: insights into the local genetic landscape and experience with ocular genetic services.

Abstract

Introduction: Inherited eye disorders (IEDs) are a leading cause of visual impairment. However, local data and information about the genetic landscape of IEDs in Hong Kong remain limited. This study aimed to examine the diagnostic yield, mutational spectrum, and clinical utility of genomic testing in patients with IEDs at a major local centre.

Methods: This retrospective observational study included 130 patients with suspected IEDs who attended the genetic counselling clinic at the Department of Clinical Genetics of the Hong Kong Children's Hospital between December 2021 and October 2023. Analyses were conducted on the spectrum of ocular genetic disorders, genetic variants, diagnostic yields, and clinical utility of genomic testing.

Results: The overall diagnostic yield of genomic testing was 51.5%. Inherited retinal disorders accounted for approximately 60% of positive results. Patients with syndromic features and a positive family history were significantly more likely to receive a molecular diagnosis (P<0.05). Clinical utility of genomic testing was observed in over 70% of patients with positive results. With genetic counselling, a confirmed molecular diagnosis contributed to disease prognostication, avoided unnecessary investigations, guided clinical management, and facilitated reproductive planning and family cascade screening.

Conclusion: There is a growing demand for the application of genomic medicine in patients with IEDs. Genetic testing is widely accepted and demonstrates high diagnostic and clinical utilities. The multidisciplinary team clinic service model is the global trend for integrating genomic testing into routine care. Hong Kong Children's Hospital is implementing this model to meet the evolving needs of this patient population.