Expansion of genotypic and phenotypic findings in -related ocular pathology.

PURPOSE

-related ocular pathology is rare with few described cases. Features include distinctive facies, refractive error, anterior segment dysgenesis, and retinal dystrophy. Previous patients were found to have homozygous variants in . Here, we present a patient with compound heterozygous -related pathology and its associated findings.

OBSERVATIONS

A 37-year-old male with a history of bilateral congenital nasolacrimal duct obstruction, dry eye syndrome, mild myopia, and accommodative esotropia presented to the Retina Service. He was found to have multiple features of anterior segment dysgenesis and retinal dystrophy, some of which have not been previously reported in association with variants. An inherited retinal disease (IRD) next-generation sequencing gene panel revealed heterozygous variants, both classified by the performing laboratory as likely pathogenic. A systematic review of previously published cases was performed for genotypic and phenotypic comparison.

CONCLUSIONS AND IMPORTANCE

Changes in lens dimensions and shape, nasolacrimal abnormalities, and good visual acuity at an older age observed in this case of compound heterozygous -related ocular pathology further expand the genotypic and phenotypic spectrum of this rare disease and its variable manifestations. This knowledge will aid the management and counseling of patients with this rare condition.