Central areolar choroidal dystrophy associated with dominantly inherited drusen.
OBJECTIVE
To describe the clinical and genetic aspects of a retinal dystrophy that combines central areolar choroidal dystrophy (CACD) and autosomal dominantly inherited drusen.


METHODS
The members of three unrelated families who demonstrated the rare combination of CACD and dominant drusen were clinically and angiographically investigated. In addition, DNA samples from the members of these families were screened for the Arg142Trp mutation in the peripherin/retinal degeneration slow (RDS) gene.


RESULTS
The severity of the CACD/dominant drusen maculopathy was age related and the expression of the phenotype varied. All affected individuals carried the Arg142Trp mutation in the peripherin/RDS gene. The clinical spectrum ranged from CACD without noticeable drusen in four individuals to the fully expressed phenotype of CACD with drusen in 14 individuals.


CONCLUSIONS
CACD macular dystrophy is associated with dominant drusen in most individuals carrying the Arg142Trp mutation in the peripherin/RDS gene in the three families described. There are no individuals with dominant drusen in the absence of the Arg142Trp mutation, suggesting that the Arg142Trp mutation is one of the factors predisposing to drusen development.
Klevering
B Jeroen
BJ
Department of Ophthalmology, University Medical Center Nijmegen, Nijmegen, Netherlands. B.Klevering@ohk.azn.nl
van Driel
Marc
M
van Hogerwou
August J M
AJ
van De Pol
Dorien J R
DJ
Deutman
August F
AF
Pinckers
Alfred J L G
AJ
Cremers
Frans P M
FP
Hoyng
Carel B
CB
D000328:Adult; D000368:Aged; D015862:Choroid Diseases / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005451:Fluorescein Angiography / Q000379:methods; D005799:Genes, Dominant; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics; D008297:Male; D008562:Membrane Glycoproteins; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics; D010375:Pedigree; D064531:Peripherins; D015593:Retinal Drusen / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D014792:Visual Acuity / Q000502:physiology
D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins