title: Spontaneous Resolution of Large Macular Retinoschisis in Enhanced S-Cone Syndrome.
abstract: The authors previously reported details on enhanced S-cone syndrome (ESCS) in a 23-year-old male patient with a homozygous NR2E3 mutation (p.Q350X) who developed large bilateral macular retinoschisis. Subsequent optical coherence tomography follow-up showed that although the large bilateral macular retinoschisis remained at the age of 28, there was dramatic improvement in the retinoschisis by the age 32, with bilateral resolution of the macular retinoschisis without any treatment by the age of 34. Although there is no established treatment for macular retinoschisis complicated by ESCS, this case demonstrated that intervention may not be required in some patients with ESCS.
authors.forename: Takaaki
authors.initials: T
authors.lastname: Hayashi
authors.forename: Tamaki
authors.initials: T
authors.lastname: Gekka
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Tsuneoka
mesh_terms: D000328:Adult; D015785:Eye Diseases, Hereditary / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D057093:Orphan Nuclear Receptors / Q000235:genetics; D012075:Remission, Spontaneous; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D041441:Retinoschisis / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D041623:Tomography, Optical Coherence; D014786:Vision Disorders / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D014792:Visual Acuity / Q000502:physiology; D058609:Visual Field Tests; D014794:Visual Fields
chemical_list: C403073:NR2E3 protein, human; D057093:Orphan Nuclear Receptors