Document Type
Report
Publication Date
1-16-2025
Abstract
Purpose: ADAMTS18-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 ho- mozygous variants in ADAMTS18. Here, we present a patient with compound heterozygous ADAMTS18-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 ADAMTS18 variants. An inherited retinal disease (IRD) next-generation sequencing gene panel revealed heterozygous ADAMTS18 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 ADAMTS18-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.
Recommended Citation
August, Ari; Procopio, Rebecca; Rapuano, Christopher; and Pulido, Jose, "Expansion of Genotypic and Phenotypic Findings in ADAMTS18-Related Ocular Pathology" (2025). Wills Eye Hospital Papers. Paper 241.
https://jdc.jefferson.edu/willsfp/241
Creative Commons License
This work is licensed under a Creative Commons Attribution-Noncommercial 4.0 License
Language
English
Included in
Eye Diseases Commons, Genetic Phenomena Commons, Investigative Techniques Commons, Ophthalmology Commons
Comments
This article is the author's final published version in American Journal of Ophthalmology Case Reports, Volume 37, 2025, Article number 102262.
The published version is available at https://doi.org/10.1016/j.ajoc.2025.102262.
Copyright © 2025 The Authors