Purpose: To report a case of enhanced S-cone syndrome associated with subfoveal neovascularization.
Design: Observational case report.
Methods: A 23-year-old man, who was first examined at age 9 years, was found to have enhanced S-cone syndrome by clinical, electrophysiological, and molecular genetic examinations.
Results: At 9 years of age, a subfoveal neovascularization was present in his right eye and corrected visual acuity was RE: 0.15 and LE: 1.0. After he was 20 years old, cystoid changes in the macula of the left eye appeared and visual acuity, in the left eye, decreased from 1.0 to 0.02.
Conclusion: The clinical course of enhanced S-cone syndrome is progressive, and we suggest that the subretinal neovascularization is a phenotypic variation of enhanced S-cone syndrome.