CLINICAL SCIENCE

Central areolar choroidal dystrophy associated with dominantly inherited drusen

B Jeroen Klevering¹, Marc van Driel², August J M van Hogerwou¹, Dorien J R van de Pol², August F Deutman¹, Alfred J L G Pinckers¹, Frans P M Cremers² and Carel B Hoyng¹

¹ Department of Ophthalmology, University Medical Center Nijmegen, Nijmegen, Netherlands
² Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, Netherlands

Correspondence to:
Correspondence to:
B J Klevering, MD, Department of Ophthalmology, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, Netherlands;
B.Klevering{at}ohk.azn.nl

Aim: 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.

Conclusion: 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.

Keywords: choroidal dystrophy; dominantly inherited drusen

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• Keilhauer, C. N., Meigen, T., Weber, B. H. F. (2006). Clinical Findings in a Multigeneration Family With Autosomal Dominant Central Areolar Choroidal Dystrophy Associated With an Arg195Leu Mutation in the Peripherin/RDS Gene. Arch Ophthalmol 124: 1020-1027 [Abstract] [Full Text]