Karynne Patterson, Jessica X Chong, Doug D Chung, Walter Lisch, Hans U Møller, Carol L Karp, Erling Dreisler, David Lockington, Jens M Rohrbach, Dorota Garczarczyk-Asim, Thomas Müller, Stephen J Tuft, Pavlina Skalicka, Yael Wilnai, Nadra Naser Samra, Ali Ibrahim, Hanna Mandel, Alice E Davidson, Petra Liskova, Anthony J Aldave, Michael J Bamshad, Andreas R Janecke
PURPOSE: To report the genetic etiology of Lisch epithelial corneal dystrophy (LECD). DESIGN: Multicenter cohort study. METHODS: A discovery cohort of 27 individuals with LECD from 17 families, including seven affected members from the original LECD family, six patients from two new families and 14 simplex cases, was recruited. A cohort of six individuals carrying a pathogenic MCOLN1 (mucolipin 1) variant was reviewed for signs of LECD. Next-generation sequencing or targeted Sanger sequencing were used in all patients to identify pathogenic/likely pathogenic variants and penetrance of variants...
November 14, 2023: American Journal of Ophthalmology