Central areolar choroidal dystrophy with associated dominant drusen

Abstract Introduction Central areolar choroidal dystrophy (CACD) is a rare, inherited disease that can lead to profound visual disturbance. It is characterized by atrophic changes, particularly in the macula. Specific genotypic mutations are responsible for the autosomal dominant form of this disease. However, there is a distinct retinal dystrophy that combines central areolar choroidal dystrophy with autosomal dominantly inherited drusen. It has been proposed that patients with a specific mutation in the peripherin/RDS gene may manifest a combined presentation. Case report Here we describe a case of a patient who reported with significantly decreased best-corrected visual acuity of fifteen years of duration in the right eye more than the left. Dilated fundus examination found macular changes that were consistent with central areolar choroidal dystrophy. In addition, there was evidence of surrounding congenital drusen throughout the arcades of both eyes. Electrodiagnostics, optical coherence tomography, and fundus fluorescein angiography were used to confirm the diagnosis of CACD. Conclusion Central areolar choroidal dystrophy normally presents without drusen. However, in patients manifesting a specific mutation, central areolar choridal dystrophy may present in conjunction with drusen. It appears that the Arg142Trp mutation is one of the factors predisposing to drusen formation.