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Blue cone monochromatism: a phenotype and genotype assessment with evidence of progressive loss of cone function in older individuals.

Authors
  • Michaelides, M
  • Johnson, S
  • Simunovic, M P
  • Bradshaw, K
  • Holder, G
  • Mollon, J D
  • Moore, A T
  • Hunt, D M
Type
Published Article
Journal
Eye (London, England)
Publication Date
Jan 01, 2005
Volume
19
Issue
1
Pages
2–10
Identifiers
PMID: 15094734
Source
Medline
License
Unknown

Abstract

The MR test is a useful method of detecting BCM across a wide range of age groups; residual tritan colour discrimination is clearly demonstrated and allows BCM to be distinguished from rod monochromatism. BCM is usually classified as a stationary cone dysfunction syndrome; however, two of our families show evidence of progression. This is the first report of progression associated with a genotype consisting of a single 5'-L/M-3' hybrid gene carrying an inactivating mutation. We have confirmed that the Cys203Arg inactivating mutation is a common sequence change in blue cone monochromats.

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