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Indian Journal of Ophthalmology, ISSN 0301-4738, 04/2019, Volume 67, Issue 4, pp. 523 - 529
Journal Article
GENES, ISSN 2073-4425, 04/2019, Volume 10, Issue 4, p. 278
Enhanced S-cone syndrome (ESCS) is caused by recessive mutations in the photoreceptor cell transcription factor NR2E3. Loss of NR2E3 is characterized by... 
TRANSCRIPTION | MOUSE | induced pluripotent stem cell (iPSC) | NR2E3 | NUCLEAR RECEPTOR NR2E3 | DEGENERATION | PLURIPOTENT STEM-CELLS | GENE | clustered regularly interspaced short palindromic repeats (CRISPR) | Enhanced S-Cone Syndrome (ESCS) | MUTATION | GENETICS & HEREDITY | homology-directed repair (HDR)
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 10/2016, Volume 57, Issue 13, pp. 5361 - 5371
Journal Article
Journal Article
Journal Article
Case Reports in Ophthalmology, ISSN 1663-2699, 12/2018, Volume 9, Issue 3, pp. 510 - 515
Introduction: We describe the youngest case of enhanced S-cone syndrome (ESCS) associated with choroidal neovascularization (CNV) successfully treated with... 
Case Report | Enhanced S-cone syndrome | Anti-VEGF | Choroidal neovascularization | Electroretinogram | NR2E3 | Ranibizumab
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 02/2000, Volume 24, Issue 2, pp. 127 - 131
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 01/2019, Volume 40, Issue 1, pp. 29 - 33
Background: Nuclear hormone receptor gene, NR2E3, plays a critical role in retinogenesis and determination of the rod photoreceptor phenotype. Mutations in... 
electroretinogram | enhanced S-cone syndrome | gene therapy | retina | NR2E3 | ESCS | ROD | MOUSE | NUCLEAR RECEPTOR NR2E3 | PHOTORECEPTOR DEVELOPMENT | GENES | GENETICS & HEREDITY | OPHTHALMOLOGY | CONCENTRIC AUTOFLUORESCENCE RING | DIFFERENTIATION | MUTATIONS
Journal Article
Journal of Medical Case Reports, ISSN 1752-1947, 10/2018, Volume 12, Issue 1, pp. 287 - 287
Journal Article
Journal Article
Journal Article
Documenta Ophthalmologica, ISSN 0012-4486, 6/2013, Volume 126, Issue 3, pp. 241 - 246
Journal Article
DOCUMENTA OPHTHALMOLOGICA, ISSN 0012-4486, 12/2010, Volume 121, Issue 3, pp. 231 - 240
The purpose of this study was to evaluate the efficacy of topical dorzolamide 2% eye drops on macular function and thickness in a case of enhanced S-cone... 
MACULOPATHY | Topical dorzolamide | OPTICAL COHERENCE TOMOGRAPHY | MEMBRANE | SENSITIVITY | ACETAZOLAMIDE | DEGENERATION | Enhanced S-cone syndrome | SD-OCT | Microperimetry | X-LINKED RETINOSCHISIS | EDEMA | OPHTHALMOLOGY | RETINITIS-PIGMENTOSA
Journal Article