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
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
- ►nih.gov I Tsui, D Casper, CL Chou, SH Tsang - Documenta Ophthalmologica, 2008 - Springer Abstract Topiramate is known to cause ocular side effects such as refractive
changes and angle closure. We describe a patient with an electronegative elec-
troretinogram (ERG) which may have been related to topiramate use. ... Cited by 3 - Related articles - BL Direct - All 5 versions
- ►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
M Fradot, O Lorentz, JM Wurtz, JA Sahel, T … - Molecular Vision, 2007 - pubmedcentral.nih.gov This is an open-access article distributed under the terms of the Creative
Commons Attribution License, which permits unrestricted use, distribution, and
reproduction in any medium, provided the original work is properly cited. Cited by 6 - Related articles - All 4 versions
MF Marmor - Documenta Ophthalmologica, 2006 - Springer Abstract Poor night vision and pigmentary ret- inopathy are hallmarks of
retinitis pigmentosa, but variations in the type of pigmentation and in the
characteristics of the electroretinogram (ERG) can point to other ... Cited by 5 - Related articles - BL Direct - All 5 versions
T Hayashi, K Kitahara - European journal of ophtalmology, 2005 - cat.inist.fr PURPOSE. The authors previously reported clinical and molecular features of a
boy(at age 17) with enhanced S-cone syndrome(ESCS) who had bilateral cystoid
maculopathies. The purpose of the current study was to describe the ... Cited by 6 - Related articles - BL Direct - All 2 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
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
- ►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
