A Rare Case of Central Areolar Choroidal Dystrophy

Abstract

Abstract The aim is to present a rare clinical case of central areolar choroidal dystrophy (CACD), confirmed clinically and electrophysiologically. A 49-year-old man underwent a detailed ophthalmological examination, fundus autofluorescence, fluorescein angiography, optical coherence tomography, visual field testing, electrophysiological (EF) studies – full-field ERG and multifocal ERG, thanks to which the diagnosis was established. A classic CACD phenotype with slightly reduced visual acuity, central scotomas, atrophy of the outer layers of the retina and the choroid in the macula and hypoautofluorescence in the macula were demonstrated. EF studies showed absence of diffuse photoreceptor involvement. The local mfERG photopic response was slightly reduced. The relatively good functional results and the pronounced anatomical changes are due to the later, secondary involvement of the photoreceptors in the macular area, characteristic of choroidal dystrophies. The comprehensive clinical and EF testing of patients with rare hereditary retinal dystrophies is essential for the correct diagnosis given the many clinical trials of new innovative therapies for many of these diseases. It is expected that some of them would become curable in the very near future, and we should be prepared when that moment comes.