Article
Disruption of the human cone photoreceptor mosaic from a defect in NR2E3 transcription factor function in young adults.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie - 1 Oct 2013
Park Sung Pyo, Hong In Hwan, Tsang Stephen H, Lee Winston, Horowitz Jason, Yzer Suzanne, Allikmets Rando, Chang Stanley
Abstract excerpt
BACKGROUND: Enhanced S-cone syndrome is an orphan disease caused by mutations in the NR2E3 gene which result in an increased number of S-cones overpopulating the retina. Although the characteristic onset of enhanced S-cone syndrome can be well-documented by current ophthalmic imaging modalities, techniques such as spectral-domain optical coherence tomography (SD-OCT) and scanning laser ophthalmoscopy (SLO) fail...
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