Familial central serous choroidopathy

Abstract

Fundus fluorescein angiography revealed bilateral window defects, corresponding to the areas of mottled RPE atrophy, and punctate spots of late hyperfluorescence (Fig. 1). The small RPE detachment in the left eye became hyperfluorescent in a sharply demarcated manner. A flash electroretinogram and electro-oculogram were normal.The patient's healthy 28-year-old daughter worked as a business executive in a "stressful" environment. A year earlier, she had noticed distortion and blurred vision in the right eye, with best-corrected visual acuities of 20/40 in the right eye and 20/25 in the left (refractive error not recorded). In the right macula was a serous retinal detachment with subretinal yellow dots. The left macula was normal. Fundus fluorescein angiography demonstrated, in the right eye, several areas of window defect and a focal leak two disc diameters temporal to the foveal center; the left eye was normal. Persistence of the symptomatic serous detachment for 10 months led to treatment of the focal leak with laser, leading to resolution. Family 2An asymptomatic 72-year-old retired physician, a former department chairman at a university medical center, presented to UCSF for routine eye examination. Best-corrected visual acuity was 20/40 in the right eye and 20/30 in the left with a low hyperopic correction. With the exception of bilateral, mild nuclear sclerosis, the anterior segments were normal. Bilateral, eccentric, mottled atrophy of the macular RPE associated with a few intraretinal exudates was present. No drusen, cystic retinal change, hemorrhage, or subretinal fluid was evident. Choroidal folds were present in the left macula. Fundus fluorescein angiography revealed bilateral mottled window defects and multiple punctate spots of late hyperfluorescence (Fig. 2). Upon being given the diagnosis of Dear Editor:We read with great interest the article by Oosterhuis reporting 11 cases of familial central serous chorioretinopathy (CSC) [6]. Sixteen families exhibiting familial CSC have now been reported [1,2,[4][5][6][7], 13 of which involve sibships. The occurrence of CSC in a parent and child appears to be uncommon. Here, we report two families with CSC affecting a parent and child. Family 1An asymptomatic 54-year-old woman was referred to UCSF for evaluation for a possible macular dystrophy. She was employed as a labor relations representative and described her job as "extremely stressful". With the exception of mild hypertension, she was otherwise healthy. Her daughter was known to have a "macular problem". This emmetropic patient had visual acuities of 20/20 in the right eye and 20/40 in the left. The anterior segments were normal. Bilateral, asymmetric, eccentric mottled atrophy of the macular retinal pigment epithelium (RPE) was present in each eye. A small, serous RPE detachment was also present inferotemporal to the left macula.

Central serous chorioretinopathy: Recent findings and new physiopathology hypothesis

“…Several sporadic cases of familial CSCR have been reported in the literature (Amalric et al, 1971;Haik et al, 1968;Lin et al, 2000;Oosterhuis, 1996;Park et al, 1998;Wyman, 1963). Stronger evidence for a genetic contribution to the pathogenesis of CSCR comes from the observation that in 14 out of 27 families of CSCR patients (52%), at least one relative presented multiple areas of RPE atrophy or fundus lesions suggestive of chronic CSCR (Weenink et al, 2001).…”

Central Serous Chorioretinopathy: Update on Pathophysiology and Treatment

“…5,70,119,157,161,222,224,230 Perhaps the most compelling evidence for a genetic contribution to pathogenesis comes from Weenink and colleagues 224 who found CSC-like pathology in 14/27 (52%) families of chronic CSC patients. Only a small percentage of affected relatives reported symptoms..…”

Role of the Complement System in Chronic Central Serous Chorioretinopathy

“…Reports of familial occurrences of cCSC support a genetic component for the disease. 1,3,4,[7][8][9][10][11] Genetic studies on cCSC have been limited to candidate gene approaches; several associations have been reported with single-nucleotide polymorphisms (SNPs) in the genes age-related macular degeneration susceptibility 2 (ARMS2), cadherin 5 (CDH5), complement factor H (CFH), and the nuclear receptor subfamily 3 group C member 2 (NR3C2), as well as in copy number variations in the complement factor 4B (C4B) gene. [12][13][14][15][16] Unbiased genome-wide association studies (GWAS) have identified hundreds of genomic loci implicated in complex diseases, such as age-related macular degeneration (AMD), myopia, and glaucoma.…”