Article
Unilateral cataract and congenital stationary night blindness in a child with novel variants in TRPM1.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Aug 2022
Saleh Eman, Pechhacker Monika Grudzinska, Vig Anjali, Mehta Maanik, Maynes Jason, Tumber Anupreet, Tavares Erika, Vincent Ajoy, Mireskandari Kamiar, Heon Elise
Abstract excerpt
Unilateral cataract can cause pediatric vision impairment. Although the majority of unilateral cataracts are idiopathic in nature, genetic causes have been reported. We present the case of a 4-week-old child of nonconsanguineous parents who was affected with unilateral cataract. Whole-genome sequencing using DNA extracted from blood and the lens epithelial cells following cataract surgery revealed two presumed...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.