Enhanced-S-cone-Syndrom

Klin Monbl Augenheilkd 2012; 229(7): 732-734
DOI: 10.1055/s-0031-1281941

Der interessante Fall

Enhanced S-Cone Syndrome

K. Manousaridis

Ophthalmology Clinic, Royal Victoria Infirmary, NHS Foundation Trust, Newcastle upon Tyne, UK

,

V. T. Papastavrou

Ophthalmology Clinic, Royal Victoria Infirmary, NHS Foundation Trust, Newcastle upon Tyne, UK

,

A. C. Browning

Ophthalmology Clinic, Royal Victoria Infirmary, NHS Foundation Trust, Newcastle upon Tyne, UK

Literatur
1 Milam AH, Rose L, Cideciyan AV et al. The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration. Proc Natl Acad Sci USA 2002; 99: -
2 Sharon D, Sandberg MA, Caruso RC et al. Shared mutations in NR2E3 in enhanced S-cone Syndrome, Goldman-Favre Syndrome, and many cases of clumped pigmentary retinal degeneration. Arch Ophthalmol 2003; 121: 1316-1323
3 Marmor MF, Jacobson SG, Foerster MH et al. Diagnostic clinical findings of a new syndrome with night blindness, maculopathy and enhanced S-cone hypersensitivity. Am J Ophthalmol 1990; 110: 124-134
4 Sohn EH, Chen FK, Rubin GS et al. Macular function assessed by microperimetry in patients with enhanced S-cone syndrome. Ophthalmology 2010; 117: 1199-1206
5 Kellner U, Zrenner E, Sadowski B et al. Enhanced S- cone sensitivity syndrome: long-term follow-up, electrophysiological and psychophysical findings. Clin Vision Sci 1993; 8: 425-434