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.