Background: Central areolar choroidal dystrophy (CACD) is a hereditary macular disorder of which the development is poorly understood.
Methods: One hundred and eight members of seven families with CACD underwent ophthalmological examination. If macular alterations were found or suspected, the patients underwent fluorescein angiography, electroretinography (ERG), electrooculography (EOG) and tests of colour vision and visual field. CACD was divided into four stages: I, slight parafoveal changes of the pigment epithelium (RPE); II, RPE mottling encircling the fovea; III, additional atrophy of the choriocapillaris without central involvement; IV, as stage III with central involvement.
Results: In 60 eyes of 30 patients, 8 with stage I, 12 with stage II, 18 with stage III and 22 with stage IV CACD were found. The photopic ERG was subnormal in about half of the cases with stage II-IV. Colour vision tests revealed diminished red sensitivity and pseudoprotanomaly in stages I and II and combined red-green and blue-yellow defect in stages III and IV. Parafoveal reduced sensitivity (stages I and II) and parafoveal and foveal reduced sensitivity (stages III and IV) were found in the visual field tests.
Conclusion: We describe and expand the stages of development of CACD. Early recognition of patients may have a great influence on their subsequent life.