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J Pediatr Genet 2014; 03(04): 219-227
DOI: 10.3233/PGE-14104
Review Article
Georg Thieme Verlag KG Stuttgart – New York

Pediatric genetic disorders of lens

Bharti R. Nihalani
a   Department of Pediatric Ophthalmology and Strabismus, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA
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Publication History

29 September 2014

30 September 2014

Publication Date:
27 July 2015 (online)

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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