The dot-and-fleck retinopathy of X linked Alport syndrome is independent of complement factor H (CFH) gene polymorphisms.
OBJECTIVE
X linked Alport syndrome is characterised by renal failure, hearing loss, lenticonus, and a central and peripheral dot-and-fleck retinopathy. complement factor H (CFH) gene variants are strongly associated with retinal drusen in macular degeneration and mesangiocapillary glomerulonephritis, and this study examines their role in the development of the Alport retinopathy.


METHODS
Twenty-three males and 27 females from 27 unrelated families were examined and their DNA tested for the CFH risk allele (1277 T>C, h1, Y402H) and protective haplotypes (h2 and h4) using a MALDI-TOF-based method.


RESULTS
The prevalence of the CFH risk allele was not increased in males with a central or peripheral retinopathy. Three of the nine (33%) with the central retinopathy had at least one copy of the risk allele, and five of the 14 (36%) without the retinopathy did (NS, OR 0.900, CI 0.154 to 5.259). Four of the 12 (33%) with either retinopathy had the risk allele, and two of the six (33%) with none did (NS OR 1.0, CI 0.125 to 7.996).


CONCLUSIONS
The pathogenesis of the retinal dots and flecks in Alport syndrome is independent of CFH-dependent mechanisms and, like other clinical features, may depend on the nature of the underlying COL4A5 mutations.
Liu
J
J
The University of Melbourne, Department of Medicine (Northern Health), The Northern Hospital, Epping VIC 3076, Australia.
Colville
D
D
Wang
Y Y
YY
Baird
P N
PN
Guymer
R H
RH
Savige
J
J
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D002648:Child; D017242:Complement Factor H / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009394:Nephritis, Hereditary / Q000150:complications / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D011110:Polymorphism, Genetic; D012162:Retinal Degeneration / Q000235:genetics* / Q000473:pathology; D015593:Retinal Drusen / Q000235:genetics / Q000473:pathology; D055815:Young Adult
D017242:Complement Factor H