The phenotypic spectrum of ADAMTSL4-associated ectopia lentis: Additional cases, complications, and review of literature

Lachlan S.W. Knight, Sean Mullany, Deepa A. Taranath, Jonathan B. Ruddle, Christopher P. Barnett, Suzanne C.E.H. Sallevelt, Ella C. Berry, Henry N. Marshall, Georgina L. Hollitt, Emmanuelle Souzeau, Jamie E. Craig, Owen M. Siggs

Research output: Contribution to journalArticlepeer-review

Abstract

Purpose: ADAMTSL4-associated ectopia lentis is a rare autosomal recessive condition that is primarily associated with crystalline lens displacement. However, the prevalence of other ocular and systemic manifestations of this condition is poorly understood. In this study, we summarize the ocular and systemic phenotypic spectrum of this condition. Methods: A cross-sectional case study series of four individuals with biallelic pathogenic or likely pathogenic AD-AMTSL4 variants was performed alongside a literature review of individuals with ADAMTSL4-associated ectopia lentis on September 29, 2021. Ocular and systemic findings, complications, and genetic findings of all four individuals were collected and summarized. Results: The phenotypic spectrum across 91 individuals sourced from literature and four individuals from this case study series was highly variable. The main ocular phenotypes included ectopia lentis (95/95, 100%), ectopia lentis et pupillae (18/95, 19%), iris transillumination (13/95, 14%), iridodonesis (12/95, 13%), persistent pupillary membrane (12/95, 13%), and early-onset cataract or lens opacities (12/95, 13%). Anterior segment features other than ectopia lentis appeared to be exclusively associated with biallelic loss of function variants (p<0.001). Pupillary block glaucoma had a prevalence of 1%. Post-lensectomy complications included retinal detachment (6/41, 15%), elevated intraocular pressure (4/41, 10%), and aphakic glaucoma (1/41, 2%). Most individuals were not reported to have had systemic features (69/95, 73%). Conclusions: The clinical phenotype of ADAMTSL4-associated ectopia lentis was summarized and expanded. Clinicians should be aware of the varied ocular phenotype and the risks of retinal detachment, ocular hypertension, and glaucoma in the diagnosis and management of this condition.

Original languageEnglish
Pages (from-to)257-268
Number of pages12
JournalMolecular Vision
Volume28
Publication statusPublished - 4 Sep 2022

Keywords

  • ADAMTSL4
  • ectopia lentis
  • autosomal recessive
  • Crystalline lens
  • ocular phenotype

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