FAMILIAL CENTRAL SEROUS CHORIORETINOPATHY

Area of Science:

• Ophthalmology
• Medical Genetics

Background:

• Central serous chorioretinopathy (CSC) is a condition affecting vision, often with unknown causes.
• Familial aggregation of CSC suggests a potential genetic component.

Purpose of the Study:

• To investigate ophthalmologic characteristics in families with multiple members affected by CSC.
• To assess disease presentation and long-term progression in familial CSC.

Main Methods:

• Prospective ophthalmologic examinations were conducted on 103 individuals from 23 families with CSC.
• Advanced imaging techniques including optical coherence tomography (OCT) and fluorescein angiography (FA) were utilized.
• Long-term follow-up data was analyzed for 24 individuals from 6 families.

Main Results:

• CSC or suggestive findings were detected in 70% of phenotyped family members (44% with definitive CSC, 26% with suggestive findings).
• Among individuals followed for over 20 years, 24% of previously unaffected subjects showed more severe abnormalities.
• Subretinal fluid and leakage "hot spots" were key indicators of CSC on OCT and FA.

Conclusions:

• Ophthalmologic phenotyping identified CSC or suggestive signs in 52% of CSC family members, indicating a significant genetic influence.
• Progressive disease development was observed in a notable proportion of patients during follow-up.
• Genetic factors are likely important in familial CSC, warranting further investigation.