[The ocular features in a father and a son with central areolar choroidal dystrophy]

To report the ocular features of a father and son with central areolar choroidal dystrophy (CACD) who had similar fundus appearance.

Case 1. A 37-year-old man noticed impairment of his vision since several months prior to his visit to our hospital. His corrected visual acuity was 0.6 OD and 1.0 OS. Well demarcated chorioretinal atrophy with a width of 2-3 disc diameters in the macular area was observed in both ocular fundi. Optical coherence tomography (OCT) at the chorioretinal atrophy areas showed thinning of retinal thickness with a disappearance of a line corresponding to the outer segment of the photoreceptor cells, but thickening of a line of the retinal pigment epithelium. Electroretinogram(ERG) and electrooculogram(EOG) showed deteriorated responses. Case 2 was a 67-year-old man, the father of patient 1. His corrected visual acuity was 0.1 OD and 0.2 p OS. Fundus appearance was similar to that of case 1. His ERG and EOG also showed similar impaired responses. His OCT also showed findings similar to those of case 1, but the retina was thinner than in case 1 in the chorioretinal atrophy area.

The rest of the retina outside the chorioretinal atrophy area in these CACD patients also seemed to be damaged because both the ERG and EOG showed damage. These two cases revealed that a CACD patient could maintain relatively good visual acuity, even though the chorioretinal atrophy had involved the foveal area, and also indications were that retinal functions had been damaged.