Download X-Linked High Myopia Associated With Cone Dysfunction

From: X-Linked High Myopia Associated With Cone Dysfunction
Arch Ophthalmol. 2004;122(6):897-908. doi:10.1001/archopht.122.6.897
Figure Legend:
Limited version of a branch ofthe original Bornholm eye disease pedigree with haplotypes of chromosome Xq27-q28markers.
Symbols are explained in the legend to Figure 1. Individual 3 hasonly deuteranopia, which is unrelated to Bornholm eye disease
(see the lastparagraph of the "Molecular Structure of Color Vision Genes" subsection ofthe "Results" section).
Date of download: 6/10/2017
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From: X-Linked High Myopia Associated With Cone Dysfunction
Arch Ophthalmol. 2004;122(6):897-908. doi:10.1001/archopht.122.6.897
Figure Legend:
Comparative electroretinogramresponses between an affected Minnesota family participant (person 24) (someblink artifact), obligate
carrier (person 33), and an unrelated normal malecontrol. A, Mixed rod and cone responses obtained with flashes of
maximumintensity (0 dB) show a subnormal b-wave amplitude in the affected participant,but not in the carrier or control. B, Lowintensity (24-dB) dark-adapted scotopicrod responses showed no definite abnormality among the participants. C,
Oscillatorypotentials, single white-flash, dark-adapted
(scotopic
responses
recordedwith the use of high-intensity 0-dB
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© 2004rod)
American
Medical
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stimulation
showed
no definite abnormalityamong Association.
the participants.
D,
Maximum-flash
(0-dB), photopic cone responses showmarked
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reduction of both a- and b-wave amplitudes in the affected participant,compared with normal amplitudes for the carrier and control
From: X-Linked High Myopia Associated With Cone Dysfunction
Arch Ophthalmol. 2004;122(6):897-908. doi:10.1001/archopht.122.6.897
Figure Legend:
Schematic representation of theX chromosome and the Xq27/Xq28 region. Marker order and genetic distanceswere determined by
reference to the National Center for Biotechnology Informationgenetic map, the Weber 9 Set, and the Généthon genetic map.The
position of the markers relative to the chromosomal bands are approximate.Opsin 1 indicates red-green cone pigment gene array;
cM, centimorgan.
Date of download: 6/10/2017
Copyright © 2004 American Medical
Association. All rights reserved.
From: X-Linked High Myopia Associated With Cone Dysfunction
Arch Ophthalmol. 2004;122(6):897-908. doi:10.1001/archopht.122.6.897
Figure Legend:
Pedigree and haplotypes of a Minnesota6-generation family with X-linked high myopia and protanopia. Circles andsquares denote
females and males, respectively; solid symbols denote affectedindividuals; and symbols with slashes denote deceased individuals.
Obligatefemale carriers are denoted with a circle containing a dot. Unknown phenotypestatus is denoted with a circle or square
containing a question mark. Eachindividual studied (plus sign) has alleles shown for X chromosome markersin descending marker
order from the telomere of the p arm to the telomereof
the©q2004
arm.American
Haplotypes
were constructed on the basis of the minimum
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numberof
recombinations
between markers. The chromosome
assumed
to
carry
Association. All rights reserved. the diseaseallele is blackened. Only essential
matings are shown; nonparticipating familymembers are not shown. Haplotype analysis indicates crossovers in individuals24 and
From: X-Linked High Myopia Associated With Cone Dysfunction
Arch Ophthalmol. 2004;122(6):897-908. doi:10.1001/archopht.122.6.897
Figure Legend:
A, Genomic structure of the normalhuman red and green pigment array. The red and green pigment genes span 15.2kilobase (kb)
and 13.3 kb, respectively, with a 24.0-kb separation betweenthese 2 genes. Additional copies of the green pigment gene arranged in
tandemat 24.0-kb intervals are found in 60% of the general white population. B,Relationship of the position of the 3′-red-green-5′ (RG) hybridgene in the visual-pigment gene array found in the Minnesota (MN) family.Hybrids can occur because of the high degree of
homology of these 2 genes(98%) (see the first paragraph
the "Molecular
Structure of Color VisionGenes" subsection of the
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"Results"
section).6/10/2017
Individuals have a variable numberof
green
pigment
genes.
Association. All rights reserved.This family has 3 additional normal green
pigmentgenes. C, Genomic structure of the human red and green pigment array fromDNA samples of individuals 26 and 28 with