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Pediatric genetic disorders of lens
- Source :
- Journal of pediatric genetics. 3(4)
- Publication Year :
- 2016
-
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.
- Subjects :
- medicine.medical_specialty
genetic structures
business.industry
Bioinformatics
eye diseases
Article
Bilateral Cataracts
medicine.anatomical_structure
Ophthalmology
Lens (anatomy)
Pediatrics, Perinatology and Child Health
Phenotype genotype
medicine
Lens disorder
Genetic diagnosis
business
Genetics (clinical)
Subjects
Details
- ISSN :
- 21464596
- Volume :
- 3
- Issue :
- 4
- Database :
- OpenAIRE
- Journal :
- Journal of pediatric genetics
- Accession number :
- edsair.doi.dedup.....a49a66b478a7d150acaea6b0b6ff3e7f