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Abstract #106147 Published in IGR 23-3
The phenotypic spectrum of associated ectopia lentis: Additional cases, complications, and review of literature
Knight LSW; Mullany S; Taranath DA; Ruddle JB; Barnett CP; Sallevelt SCEH; Berry EC; Marshall HN; Hollitt GL; Souzeau E; Craig JE; Siggs OMMolecular Vision 2022; 28: 257-268
PURPOSE: Array METHODS: A cross-sectional case study series of four individuals with biallelic pathogenic or likely pathogenic variants was performed alongside a literature review of individuals with -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 -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.
Department of Ophthalmology, Flinders University, Flinders Medical Centre, Bedford Park, Australia.
