2 research outputs found
Chromatic aberration and the roles of double-opponent and color-luminance neurons in color vision
How does the visual cortex encode color? I summarize a theory in which cortical double-opponent color neurons perform a role in color constancy and a complementary set of color-luminance neurons function to selectively correct for color fringes induced by chromatic aberration in the eye. The theory may help to resolve an ongoing debate concerning the functional properties of cortical receptive fields involved in color coding. (c) 2006 Elsevier Ltd. All rights reserved
Genetic analysis of inherited retinal dystrophies
This thesis describes the genetic analysis conducted to investigate the cause of six autosomal dominant macular dystrophies (North Carolina macular dystrophy, MCDR1; North Carolina-like macular dystrophy, MCDR3; North Carolina-like macular dystrophy with progressive sensorineural hearing loss, MCDR4; progressive
bifocal chorioretinal atrophy, PBCRA; bull’s-eye maculopathy,
MCDR2 and split-hand/foot malformations with associated North
Carolina macular dystrophy, SHFM and NCMD) and one cone
dysfunction with associated myopia and dichromacy (Bornholm
eye disease, BED). The method of using Affymetrix SNP chips was
tested for its usefulness in conducting genetic analysis on the
macular disorders. The chips were used to see if disorders
previously linked to large genomic regions could have their loci
refined to help determine where the genetic error for each disorder
lies. The genotyping results reveal the analysis is more informative
when including genotyping data of affected offspring and their
parents. MCDR1 analysis without such samples did not refine the
disease locus. The copy number variation (CNV) analysis
conducted was novel for the disorders and highlighted interesting
regions of CNV, particularly in the SHFM and NCMD analysis at
5p15.33 for which QPCR confirmed loss of one copy of a novel
microRNA. For MCDR2 analysis, new families were identified as
carrying the mutation Arg373Cys in exon 10 of the PROM1 gene.
Genetic analysis conducted on various families with BED has
revealed the genetic cause of the disorder. Genetic changes
leading to the amino acid combination of leucine,
isoleucine/valine, alanine, valine and alanine at residues 153,
170, 174, 178 and 180, respectively, in the L or M opsin genes
were consistently found in BED patients and are believed to result in the disease phenotype. Additionally, a family with a BEDrelated
phenotype was found to carry a novel mutation in exon 2
of a hybrid M opsin gene that would lead to a Glu41Lys
substitution