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Gene panels and genomic testing for childhood cataract and lens dislocation disorders
Author(s) -
Black G.C.,
Hall G.,
Ramsden S.,
Lloyd I.C.
Publication year - 2015
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2015.0017
Subject(s) - etiology , medicine , genetic counseling , genetic testing , lens (geology) , bioinformatics , pathology , genetics , biology , paleontology
Summary Congenital cataract ( CC ) affects 3–5 individuals per 10,000 and is a significant cause of lifelong visual disability worldwide. Highly heterogeneous, CC may be isolated or may form one manifestation of a multisystemic condition. It is estimated that around 50% of bilateral CC cases have a genetic basis, with well over 100 genes implicated in their underlying etiology. Consequently, the identification and characterisation of CC is not equivalent to making a clinical diagnosis on which is based care planning, genetic counselling and non‐ocular management. Until recently, clinical investigation of patients with CC has been based upon an iterative, clinically‐driven process that is expensive, time‐consuming and inefficient. The advent of Next Generation Sequencing promises to provide a platform upon which can be built a unified approach to diagnosis. We, and others, have shown that such an approach can identify the molecular basis of CC and other lens‐related disorders such as lens subluxation in the majority (over 70% in our series) of cases. When applied early in the diagnostic pathway this can direct ongoing management, improve outcomes for pathents, and direct genetic counselling for families with CC .