CHRONIC CENTRAL SEROUS CHORIORETINOPATHY WITHIN THREE FIRST-DEGREE RELATIVES: A CASE REPORT FROM AN ITALIAN FAMILY

To investigate the clinical and genetic characteristics of a family with first-degree relatives affected by central serous chorioretinopathy (CSCR).

Retrospective study of members of a family affected by CSCR. Patients underwent complete ophthalmologic examination, multimodal retinal imaging, and genetic analysis of complement factor H gene was performed.

Three members of an Italian family (father and two sons) were included in this study. The father (74 years) displayed CSCR with macular atrophy, multiple gravitational retinal pigment epithelium abnormalities, and bilateral neovascular membrane. The eldest son (43 years) presented recurrent and bilateral serous retinal detachments with retinal pigment epithelium gravitational-type alterations. The younger son (38 years) showed minimal alterations of the retinal pigment epithelium after acute episodes of CSCR. No pathogenetic sequences were identified by molecular test of complement factor H gene.

Clinical signs of the same pathology in three members of a family suggest the presence of predisposing factors responsible for a possible familial CSCR.