Proposed Topic (Most preferred): :
Clinical Safety and Quality Service III (Projects aiming at quality service to patients and their carers)
Authors (including presenting author) :
Cheng SWS(1),Luk HM(1)
Affiliation :
(1)Clinical Genetics Service Unit, Hong Kong Children’s Hospital
Introduction :
Inherited eye disorders (IEDs) are an important cause of visual impairment in children and adults. The field of ocular genetics is rapidly evolving from making genetic diagnosis to various targeted gene therapy. In Hong Kong, the local data and genetic landscape for inherited eye disorders are lacking. Being the major service provider of public genetic and genomic services in Hong Kong, Clinical Genetics Service Unit (CGSU) of Hong Kong Children’s Hospital (HKCH) would delve into this aspect and review clinical utility of genomic testing on ocular diseases, aiming at providing quality, comprehensive and holistic care for our patients and their families.
Objectives :
The study aims at exploring the diagnostic yield, mutational spectrum and clinical utility of genomic testing on patients referred to CGSU with IEDs.
Methodology :
Through this retrospective study, we reviewed the clinical and molecular findings in all referred patients with suspected inherited eye diseases in Clinical Management System (CMS). Spectrum of ocular genetic disorders, genetic variants, diagnostic yield and clinical utility of genomic testing would be analyzed.
Result & Outcome :
From December 2021 to October 2023, 148 index patients suspected of IEDs were referred to our clinic. The mean age at first encounter was 23.5 years, with a median age of 15 years. Inherited retinal disorders were the most prevalent ocular abnormalities detected in 45% of our referred patients, followed by 14% for neuro-ophthalmology problems (e.g. optic neuropathy) and 13% for ocular tumor. Cataract, refractive errors , anterior chamber dysgenesis and microphthalmia, anophthalmia, coloboma (MAC) were present in 11%, 6% ,4% and 4% of patients respectively. A total of 132 patients consented to undergo genetic testing. The overall diagnostic yield was 48.5%. The MAC spectrum subgroup had the highest diagnostic yield at 67%. Among the patients tested, 18 displayed novel genetic variants across an array of genes. Apart from achieving diagnostic certainty, over 90 % patients with confirmed molecular diagnosis reported other clinical utility of genetic testing in either reproductive options/ family planning, disease management/ prognosis and pre-symptomatic screening aspects. Presently, the recently established Oculo-Genetic Clinic at the Hong Kong Children's Hospital is delivering comprehensive, superior care to patients with inherited eye disorders, catering effectively to the rising demand for such services in Hong Kong.
