An early-onset autosomal dominant macular dystrophy (MCDR3) resembling North Carolina macular dystrophy maps to chromosome 5.
OBJECTIVE
To characterize the phenotype of an autosomal dominant macular dystrophy and identify the chromosomal locus.


METHODS
Thirteen members of a four-generation, nonconsanguineous British family were examined clinically and also underwent automated perimetry, fundus fluorescein angiography, and fundus autofluorescence imaging. After informed consent was obtained, blood samples were taken for DNA extraction, and genetic linkage analysis was performed.


RESULTS
The retinal changes have an early age of onset and are confined to the macular region. The macular abnormalities vary from mild retinal pigment epithelium (RPE) pigmentary change to atrophy. Drusen-like deposits are present to various degrees and are characteristic of the phenotype. Subretinal neovascular membrane (SRNVM) is an established complication. Genetic linkage analysis established linkage to chromosome 5, region p13.1-p15.33 with a maximum LOD score of 3.61 at a recombination fraction of 0.00 for marker D5S630. The locus for this autosomal dominant macular dystrophy lies between flanking markers D5S1981 and D5S2031.


CONCLUSIONS
A novel locus has been identified for early-onset autosomal dominant macular dystrophy on chromosome 5.
Michaelides
Michel
M
Institute of Ophthalmology, University College London, London, United Kingdom.
Johnson
Samantha
S
Tekriwal
Alok K
AK
Holder
Graham E
GE
Bellmann
Caren
C
Kinning
Esther
E
Woodruff
Geoffrey
G
Trembath
Richard C
RC
Hunt
David M
DM
Moore
Anthony T
AT
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D004247:DNA / Q000032:analysis; D005260:Female; D005451:Fluorescein Angiography; D005799:Genes, Dominant; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008126:Lod Score; D008268:Macular Degeneration / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D009657:North Carolina; D010375:Pedigree; D016133:Polymerase Chain Reaction
D004247:DNA