Literature DB >> 27625879

Pediatric genetic disorders of lens.

Bharti R Nihalani1.   

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.

Entities:  

Keywords:  Genetic disorders of lens; congenital cataract; syndromic cataract

Year:  2014        PMID: 27625879      PMCID: PMC5021009          DOI: 10.3233/PGE-14104

Source DB:  PubMed          Journal:  J Pediatr Genet        ISSN: 2146-460X


  1 in total

1.  Systemic and ocular associations in pediatric patients undergoing cataract surgery.

Authors:  Bharti R Nihalani; Deborah K VanderVeen
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2022-08-15       Impact factor: 3.535

  1 in total

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