Autosomal Recessive ADAMTSL4-Related Isolated Ectopia Lentis in the Ohio Old Order Amish and Mennonite Communities.

ABSTRACT: Purpose: To present a series of 4 patients from the Ohio Amish or Mennonite populations with isolated ectopia lentis. Methods: A case series was evaluated. Results: Four cases with bilateral lens subluxations were diagnosed with a homozygous c.767_786del pathogenic variant in ADAMTSL4. Their ages ranged from 2 to 22 years. Three cases were symptomatic and were managed surgically with lensectomy, vitrectomy, and endolaser photocoagulation with or without secondary intraocular lens (IOL) implantation. One asymptomatic patient was observed. The postoperative visual acuity ranged from 20/20 to 20/60 in nonamblyopic eyes. Conclusions: The pathogenic homozygous c.767_786del variant in ADAMTSL4 may be a cause of bilateral isolated ectopia lentis in the Oh

SUBMITTER: Chiang T 

PROVIDER: S-EPMC11323518 | biostudies-literature | 2024 Jul-Aug

REPOSITORIES: biostudies-literature