Cone opsins, colour blindness and cone dystrophy: Genotype-phenotype correlations

被引：3

作者：

Gardner, J. C. ^{[1
]}

Michaelides, M. ^{[1
,2
]}

Hardcastle, A. J. ^{[1
]}

机构：

[1] UCL, Inst Ophthalmol, London, England

[2] Natl Hlth Serv Fdn Trust, Moorfields Eye Hosp, London, England

来源：

SAMJ SOUTH AFRICAN MEDICAL JOURNAL | 2016年 / 106卷 / 06期

关键词：

LINKED INCOMPLETE ACHROMATOPSIA; DYSFUNCTION SYNDROME; MOLECULAR-GENETICS; VISION; MYOPIA; MUTATIONS; MONOCHROMACY; ARRAY;

D O I：

10.7196/SAMJ.2016.v106i6.11001

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

X-linked cone photoreceptor disorders caused by mutations in the OPN1LW (L) and OPN1MW (M) cone opsin genes on chromosome Xq28 include a range of conditions from mild stable red-green colour vision deficiencies to severe cone dystrophies causing progressive loss of vision and blindness. Advances in molecular genotyping and functional analyses of causative variants, combined with deep retinal phenotyping, are unravelling genetic mechanisms underlying the variability of cone opsin disorders.

引用

页码：S75 / S78

页数：4

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