Enhanced S-cone syndrome with subfoveal neovascularization.
OBJECTIVE
To report a case of enhanced S-cone syndrome associated with subfoveal neovascularization.


METHODS
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.


CONCLUSIONS
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.
Nakamura
Makoto
M
Department of Ophthalmology, Nagoya University School of Medicine, Japan. makonaka@med.nagoya-u.ac.jp
Hotta
Yoshihiro
Y
Piao
Chang-Hua
CH
Kondo
Mineo
M
Terasaki
Hiroko
H
Miyake
Yozo
Y
D000328:Adult; D004252:DNA Mutational Analysis; D005451:Fluorescein Angiography; D005584:Fovea Centralis / Q000473:pathology*; D006801:Humans; D008269:Macular Edema / Q000235:genetics; D008297:Male; D009755:Night Blindness / Q000175:diagnosis / Q000235:genetics*; D057093:Orphan Nuclear Receptors; D017354:Point Mutation; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics; D017949:Retinal Cone Photoreceptor Cells / Q000473:pathology*; D015861:Retinal Neovascularization / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics; D014792:Visual Acuity
C403073:NR2E3 protein, human; D057093:Orphan Nuclear Receptors; D018160:Receptors, Cytoplasmic and Nuclear; D014157:Transcription Factors