- ►bmj.com [PDF] SH Chavala, A Sari, H Lewis, GJT Pauer, E … - British Medical Journal, 2005 - bjo.bmj.com Macular degeneration associated with a novel Treacher Collins tcof1 mutation and
evaluation of this mutation in age related macular degeneration Treacher Collins
syndrome (TCS) results from defects in a nucleolar trafficking protein ... Cited by 12 - Related articles - All 9 versions
- ►iovs.org I Audo, M Michaelides, AG Robson, M … - Investigative Ophthalmology & Visual Science, 2008 - ARVO RESULTS. The fundus appearance was variable, from normal to typical nummular
pigment clumping at the level of the retinal pigment epithelium in older
patients. Nine patients had foveal schisis, and one had peripheral schisis. ... Cited by 12 - Related articles - BL Direct - All 2 versions
NB HAIDER, P DEMARCO, AM NYSTUEN, X … - Visual Neuroscience, 2007 - Cambridge Univ Press PATSY M. NISHINA 2 1 Departments of Genetics, Cell Biology, Anatomy and
Ophthalmology and Visual Sciences, University of Nebraska Medical Center, Omaha,
Nebraska 2 The Jackson Laboratory, Bar Harbor, Maine 3 Departments of ... Cited by 20 - Related articles - BL Direct - All 2 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
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
AF Wright, AC Reddick, SB Schwartz, JS … - Human mutation, 2004 - retinascience.de Communicated by Daniel F. Schorderet Ten new and seventeen previously reported
Enhanced S Cone Syndrome (ESCS) subjects were used to search for genetic
heterogeneity. All subjects were diagnosed with ESCS on the basis of ... Cited by 31 - Related articles - View as HTML - BL Direct - All 9 versions
T Hayashi, T Gekka, S Goto-Omoto, T … - Ophthalmology, 2005 - Elsevier Fundus examinations, optical coherence tomography (OCT), Goldmann visual field
(VF) perimetry, color vision tests, spectral sensitivity, and full-field and
spectral electroretinography (ERG) were performed. Mutation screening of ... Cited by 17 - Related articles - All 8 versions
PG Theodossiadis, C Koutsandrea, AC Kollia … - American journal of ophthalmology, 2000 - Elsevier In a 23-year-old white man with an 8-year history of visual impairment in both
eyes and night blindness, vertical and horizontal optical coherence tomography
images were obtained through the macula and through the retinoschisis ... Cited by 6 - Related articles - BL Direct - All 7 versions
D Bandah, S Merin, M Ashhab, E Banin, D … - Archives of Ophthalmology, 2009 - Am Med Assoc Results We recruited 6 consanguineous Muslim families and 2 Jewish families with
enhanced S-cone syndrome. Patients from 4 of the Muslim families were homozygous
for the same NR2E3 mutation, c.119-2A>C, but showed considerable ... Cited by 2 - Related articles - All 4 versions
