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Molecular diagnosis of X‐linked retina diseases
Author(s) -
HARDCASTLE AJ
Publication year - 2008
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.1755-3768.2008.5454.x
Subject(s) - retinitis pigmentosa , genetics , phenotype , mutation , genotype , gene , biology , x linked recessive inheritance , retinal disorder , fundus (uterus) , genotype phenotype distinction , medicine , x chromosome , ophthalmology , retinal
Purpose X‐linked retinal dystrophies present as clinically severe in affected males, whereas heterozygous carrier females show a wide spectrum of clinical signs from normal to marked abnormalities. A range of phenotypes will be discussed, and phenotype/genotype correlation explored. Methods Patient DNA was analysed for mutations in X‐linked genes by a combination of PCR and sequencing. Clinical tests included fundus examination and ERG recordings. Results Molecular screening has resulted in identification of the causative mutation in many cases. Interpretation of the pathogenicity of a sequence alteration can be problematic in the absence of a functional test for sequence changes. Examples of mutations identified will be presented with associated clinical outcomes, with particular emphasis on RPGR as a cause of retinitis pigmentosa, cone‐rod dystrophy, or syndromic RP. Conclusion A molecular diagnosis is often necessary to determine carrier status of at risk females in X‐linked pedigrees. Phenotypes vary between and within families with mutations in the genes RPGR and RP2. However, phenotype and genotype can be correlated for X‐linked congenital stationary night blindness caused by mutations in the NXY and CACNA1F genes.