Affiliations: Department of Pediatric Ophthalmology and Strabismus, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA
Note: [] Corresponding author: Bharti R. Nihalani, MD, Department of Pediatric Ophthalmology and Strabismus, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Fegan 4, Boston, MA 02115, USA. Tel.: +1 617 355 6401; Fax: +1 617 730 0392; E-mail: bharti.gangwani@childrens.harvard.edu
Abstract: Pediatric genetic disorders of lens include various cataractous and non-cataractous anomalies. The purpose of this review is to help determine the genetic cause based on the lens appearance, ocular and systemic associations. Children with bilateral cataracts require a comprehensive history, ophthalmic and systemic examination to guide further genetic evaluation. With advancements in genetics, it is possible to determine the genetic mutations and assess phenotype genotype correlation in different lens disorders. The genetic diagnosis helps the families to better understand the disorder and develop realistic expectations as to the course of their child's disorder.
Keywords: Genetic disorders of lens, congenital cataract, syndromic cataract
