CJF Boon, MJ van Schooneveld, AI den … - British journal of ophthalmology, 2007 - bjo.bmj.com Results: All 10 probands carried mutations in the peripherin/RDS gene. Nine
different mutations were identified, including six mutations that were not
described previously. All probands showed a pattern dystrophy with yellow– ... Cited by 4 - Related articles - BL Direct - All 7 versions
CJF Boon, MJ van Schooneveld, AI den … - bjo.bmj.com Page 1. doi: 10.1136/bjo.2007.115659 published online May 15, 2007 Br J Ophthalmol
Camiel JF Boon, Mary J. van Schooneveld, Anneke I. den Hollander, et al. ... Related articles
P Wang, X Guo, Q Zhang - Graefe's Archive for Clinical and Experimental …, 2007 - Springer Dear Editor: Leber congenital amaurosis (LCA; OMIM 204000) is the earliest and
most severe form of inherited retinal dystrophy. It is generally transmitted as
an autosomal recessive trait with clinical and genetic heterogeneity. ... Cited by 1 - Related articles - BL Direct - All 3 versions
ZB Jin, N Nao-i - Japanese Journal of Ophthalmology, 2007 - Springer Acknowledgment. This work was supported by Grants-in Aid 16591747 (MK) and
16390497 (HT) from the Ministry of Education, Culture, Sports, Science and
Technology, Japan. Chang-Hua Piao 1 , Mineo Kondo 1 , Shinichiro Ishikawa 2 ... Cited by 1 - Related articles - All 4 versions
MD Ritu Arora, MS Sima Das, MS Daraius … - Clinical & Experimental Ophthalmology - interscience.wiley.com A 35-year-old man presented with decreased vision in both eyes. Fundus
biomicroscopy of the right eye revealed a pseudohypopyon along with an area of
hyperpigmentation and scarring at the macula (combined stage III and IVb ... Cited by 1 - Related articles - All 2 versions
S Stenirri, S Battistella, N Soriani, S Bernal, … - European journal of ophthalmology - ncbi.nlm.nih.gov PURPOSE: Among the 500 ABCA4 mutations identified so far in the retina-specific
ABC transporter (ABCA4) gene, only 20 have been described in patients with
autosomal recessive retinitis pigmentosa (arRP). In this study the gene was ... Cited by 1 - Related articles - BL Direct
S Yzer, LI van den Born, MN Zonneveld, I … - Molecular Vision, 2007 - molvis.org Results: We found a new pathologic ATP-binding cassette transporter (ABCA4)
splice-site mutation, c.3523-2A>T and the previously reported c.5327C>T
(p.P1776L) missense mutation in the arCRD patients. The three siblings ... Cited by 1 - Related articles - Cached - All 6 versions
A Morgan, CM Eandi, K Noble, K Freund, RF … - Investigative Ophtalmology and Visual Science, 2005 - ARVO Five patients (3 male, 2 female) were examined. Mean age was 37.4 years (range
25 to 53 years). The OCT scans demonstrated the presence of subretinal fluid in
every patient. Fluorescein angiography showed granular areas of ... Cited by 1 - Related articles
NG Ghazi, C Dibernardo, HS Ying, K Mori, PL … - American journal of ophthalmology, 2006 - Elsevier Eleven formalin-fixed caps of seven human eyes previously enucleated for
choroidal melanoma at the Wilmer Eye Institute were studied. The ORL evaluation
consisted of sequential, surgical elimination of the retinal pigment ... Cited by 7 - Related articles - All 20 versions
M Zeng, C Yi, X Guo, X Jia, Y Deng, J Wang, … - Current Eye Research, 2007 - informahealthcare.com X-linked juvenile retinoschisis (XLRS) is a major cause of macular degeneration
in young men. In this study we analyzed all six exons of the XLRS1 gene in four
sporadic XLRS patients and in an affected family in China who were recently ... Cited by 2 - Related articles - BL Direct - All 5 versions
