Abstract
In this study, we investigated medically or surgically actionable genes in inherited eye disease, based on clinical phenotype and genomic data. This retrospective consecutive case series included 149 patients with inherited eye diseases, seen by a single pediatric ophthalmologist, who underwent genetic testing between 1 March 2017 and 28 February 2018. Variants were detected using a target enrichment panel of 429 genes and known deep intronic variants associated with inherited eye disease. Among 149 patients, 38 (25.5%) had a family history, and this cohort includes heterogeneous phenotype including anterior segment dysgenesis, congenital cataract, infantile nystagmus syndrome, optic atrophy, and retinal dystrophy. Overall, 90 patients (60.4%) received a definite molecular diagnosis. Overall, NGS-guided precision care was provided to 8 patients (5.4%). The precision care included cryotherapy to prevent retinal detachment in COL2A1 Stickler syndrome, osteoporosis management in patients with LRP5-associated familial exudative vitreoretinopathy, and avoidance of unnecessary phlebotomy in hyperferritinemia-cataract syndrome. A revision of the initial clinical diagnosis was made in 22 patients (14.8%). Unexpected multi-gene deletions and dual diagnosis were noted in 4 patients (2.7%). We found that precision medical or surgical managements were provided for 8 of 149 patients (5.4%), and multiple locus variants were found in 2.7% of cases. These findings are important because individualized management of inherited eye diseases can be achieved through genetic testing.
Highlights
All patients were of a single ethnicity (Korean) except 1 Vietnamese; none of the patients were of consanguineous parentage
Infantile nystagmus was presented in 103 patients (69.1%)
next-generation sequencing (NGS) in inherited eye diseases study revealed that the diagnostic yield of targeted in inherited eye diseases was was approximately 60%
Summary
Clinical genetic testing with next-generation sequencing (NGS) has been gaining popularity of late [1,2]. Many inherited eye diseases, such as congenital cataracts or retinitis pigmentosa, exhibit considerable genetic heterogeneity; the use of NGS technology enables a larger number of patients to obtain a molecular diagnosis for their disease. Accurate molecular diagnosis is important for acquiring information regarding visual prognosis and guiding future family planning. Genetic diagnosis generally has not led to a change in treatment or disease management.
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