- ►nih.gov NK Wang, HF Fine, S Chang, CL Chou, W Cella … - British Medical Journal, 2009 - bjo.bmj.com Results: Homozygous mutation in R311Q in NR2E3 was detected in this family.
Colour photographs revealed that white dots do not correlate to
hyperautofluorescent spots seen in autofluorescence imaging of the macula. ... Cited by 4 - Related articles - All 4 versions
V Vaclavik, C Chakarova, SS Bhattacharya, … - British Journal of Ophthalmology, 2008 - bjo.bmj.com Enhanced S-cone syndrome (ESCS) is a rare autosomal recessive disorder related
to mutations in NR2E3. There is early nyctalopia with peripheral field loss and
possible macular involvement with loss of central vision.1 Signs include ... Cited by 4 - Related articles - All 3 versions
J Xu, LL Molday, RS Molday, MV Sarunic - Investigative Ophthalmology & Visual Science, 2009 - ARVO RESULTS. The retinal layers were identifiable in the FD OCT images, permitting
delineation and thickness measurement of the outer nuclear layer (ONL). During
FD OCT in vivo imaging of the Rs1h-knockout mouse, holes were observed in ... Cited by 3 - Related articles - All 4 versions
AO Khan, M Aldahmesh, B Meyer - British Journal of Ophthalmology, 2007 - bjo.bmj.com Circumpapillary choroidal ''haemorrhoid'' in Klippel– Trenauney–Weber
syndrome Klippel–Trenauney–Weber syndrome is a neuro- cutaneous vascular
disease characterised by deep venous dysplasia affecting the head and ... Cited by 5 - Related articles - All 5 versions
SA van de Pavert, AS Sanz, WM Aartsen, RM … - Glia, 2007 - interscience.wiley.com Mutations in the human Crumbs homologue-1 (CRB1) gene cause retinal blinding
diseases, such as Leber congenital amaurosis and retinitis pigmentosa. In the
previous studies we have shown that Crb1 resides in retinal Müller glia ... Cited by 5 - Related articles - BL Direct - All 2 versions
NK Wang, HF Fine, S Chang… - bjo.bmj.com NK Wang, HF Fine, S Chang, et al. ... References http://bjo.bmj.com/content/93/
9/1234.full.html#ref-list-1 This article cites 28 articles, 14 of which can be
accessed free at: ... Cellular origin of fundus autofluorescence in patients Related articles - All 2 versions
SI Pachydaki, CC Klaver, IA Barbazetto, MS … - Archives of Ophthalmology, 2009 - archopht.highwire.org Results Three different mutations in NR2E3 were identified: R311Q and 2 novel
mutations—missense change Q350R and an in-frame deletion of phenylalanine at
position 71 (delF71) in exon 2. Three patients who were homozygous for ... Cited by 3 - Related articles - All 3 versions
- ►nih.gov M Kobayashi, K Hara, RT Yu, K Yasuda - Development Genes and Evolution, 2008 - Springer Abstract The photoreceptor-specific nuclear receptor (PNR; Nr2e3) is a
transcription factor important for retinal development. We report here the
identification and expres- sion analysis of the avian Nr2e3. Nr2e3 mRNA is ... Cited by 3 - Related articles - All 5 versions
DF Schorderet, P Escher, EPF de Lausanne, … - Hum Mutat. Find this article online, 2009 - interscience.wiley.com NR2E3, also called photoreceptor-specific nuclear receptor (PNR), is a
transcription factor of the nuclear hormone receptor superfamily which
expression is uniquely restricted to photoreceptors. There, its ... Cited by 2 - Related articles - All 2 versions
