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The ADAMTSL4 gene encodes proteins for cellular adhesion, angiogenesis, nervous system development and anterior / posterior segment structures. This case report describes a four-year-old female with diagnosis at referral of ELP. A three-generation pedigree was obtained and was negative for ELP, sudden deaths, tall stature or cardiac issues. The only significant history was her paternal grandfather – born deaf and retinitis pigmentosa with history suggestive of Usher syndrome. Genetic assessment showed two heterozygous pathogenetic variants in the gene. Parental testing revealed these variants to be in trans and confirmed the autosomal recessive inheritance pattern. The authors proceed to outline an algorithm for work-up of patients with ELP considering history and physical examination, supplemental studies and gene panel assessment.

Ectopia lentis et pupillae caused by ADAMTSL4 pathogenic variants and an algorithm for work-up.
Safi M, Nejad SK, O’Hara M, Shankar SP.
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Fiona Rowe (Prof)

Institute of Population Health, University of Liverpool, UK.

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