Genetic investigation for diagnosis of cataract patients
Prompt genetic investigation with comprehensive panel testing can aid with diagnosis and optimise management of cataract patients
Suzannah Bell MD
Prompt genetic investigation with comprehensive panel testing can aid with the diagnosis and optimise management of cataract patients, according to the conclusions of a study that will be presented at this weekend’s 25th ESCRS Winter Meeting Virtual.
In her Free Paper to be presented on Friday February 19, Dr Suzannah Bell, Clinical research fellow at Moorfields Eye Hospital, NHS Foundation Trust, London, UK, said childhood cataract affects 2.5-to-3.5 per 10,000 children in the UK, with a genetic mutation identified in 50-to-90% of bilateral cases. However, cataracts can also manifest in adolescence and early adulthood in isolation, as part of a complex ocular phenotype or with systemic features making accurate diagnosis more challenging.
A retrospective review of consecutive bilateral cataract patients (0 to 25 years) presenting to the ocular genetics service at Moorfields Eye Hospital between 2017 and 2020 was carried out. Fifty-four patients from 44 unrelated families were identified, with a median age of 13.5 years (range 1 to 68 years) and a median age at diagnosis of 43.9 months IQR (1.7 to 140.3 months); 40.7% were female and 46.3% were Caucasian. Overall, 37 patients from 27 families (61.4%) were genetically solved (50%) or likely solved (additional 11.4%), with 26 disease-causing variants (eight were novel) in 21 genes; the most common were crystallin genes, in eight (29.6%) families, with half occurring in the CRYBB2 gene.
“There was no significant difference in the molecular diagnostic rates between sporadic and familial inheritance (p=0.287),” said Dr Bell in her Free Paper. “Associated clinical diagnoses were retinal dystrophies in five (18.5%) and aniridia in three (11.1%) families. Bilateral cataracts were the presenting feature in 27.3% (6/22) of either complex or syndromic cases, and isolated cataract patients were 11.5 years younger (rank-sum Z = 3.668, P = 0.0002),” she said.
All Free Paper presentations will be available to view anytime throughout the Meeting in an Online Library.