Article
The phenotypic spectrum of ADAMTSL4-associated ectopia lentis: Additional cases, complications, and review of literature.
Molecular vision - 1 Jan 2022
Knight Lachlan S W, Mullany Sean, Taranath Deepa A, Ruddle Jonathan B, Barnett Christopher P, Sallevelt Suzanne C E H, Berry Ella C, Marshall Henry N, Hollitt Georgina L, Souzeau Emmanuelle, Craig Jamie E, Siggs Owen M
Abstract excerpt
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...
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