Clinical utility gene card for: blue cone monochromatism

Eur J Hum Genet. 2011 Jun;19(6). doi: 10.1038/ejhg.2010.232. Epub 2011 Jan 26.

Authors

Susanne Kohl¹, Christian P Hamel

Affiliation

¹ Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Opthalmology, University Tuebingen, Tuebingen, Germany. Susanne.kohl@uni-tuebingen.de

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Age Factors
Color Vision Defects / diagnosis*
Color Vision Defects / epidemiology
Color Vision Defects / genetics
Diagnosis, Differential
Eyeglasses
Female
Gene Frequency
Genetic Diseases, X-Linked / diagnosis*
Genetic Diseases, X-Linked / genetics
Humans
Incidence
Leber Congenital Amaurosis / diagnosis*
Leber Congenital Amaurosis / genetics
Mutation*
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Predictive Value of Tests
Retinitis Pigmentosa / diagnosis*
Retinitis Pigmentosa / genetics
Risk Factors
Rod Opsins / genetics*
Sequence Analysis, DNA
Sex Factors
Vision Tests

Substances

Rod Opsins
long-wavelength opsin
middle-wavelength opsin

Supplementary concepts

Blue cone monochromatism
Cone dystrophy, x-linked, with tapetal-like sheen