M Michaelides, LL Chen, MA Brantley, JL … - British Journal of Ophthalmology, 2007 - bjo.bmj.com Results: Fourteen probands (35%) were found to have a potentially
disease-causing ABCA4 sequence variant on at least one allele. Three patients
had a Gly1961Glu missense mutation, the most common variant in Stargardt ... Cited by 2 - Related articles - BL Direct - All 3 versions
X Li, X Ma, Y Tao - Mol Vis, 2007 - molvis.org X-linked retinoschisis (XLRS) is one of the most com- mon causes of juvenile
macular degeneration in males [1], with a worldwide prevalence of 1 in
15,000-25,000 men [2]. This X-linked trait affects only men; female ... Cited by 3 - Related articles - View as HTML - All 4 versions
- ►nih.gov LS Kim, W Seiple, GA Fishman, JP Szlyk - Documenta Ophthalmologica, 2007 - Springer Abstract Purpose To determine whether retinal dysfunc- tion in obligate carriers
of X-linked retinoschisis (XLRS) could be observed in local electroretino-
graphic responses obtained with the multifocal electroretinogram (mfERG). ... Cited by 3 - Related articles - BL Direct - All 6 versions
R Burgess, RE MacLaren, AE Davidson, JE … - British Medical Journal, 2009 - jmg.bmj.com Autosomal dominant vitreoretinochoroidopathy (ADVIRC), a retinal dystrophy often
associated with glaucoma and cataract, forms part of a phenotypic spectrum of
'bestrophinopathies'. It has been shown previously that ADVIRC results from ... Cited by 3 - Related articles - All 3 versions
G Querques, M Regenbogen, C Quijano, N … - American Journal of Ophthalmology, 2008 - Elsevier Using HD OCT, we were able to demonstrate for the first time the presence of
previtelliform lesions, characterized by a thicker layer between the retinal
pigment epithelium (RPE) and the inner segment and outer segment (IS/OS) ... Cited by 4 - Related articles - All 18 versions
P Goodwin - Current opinion in ophthalmology, 2008 - journals.lww.com It is difficult to keep up with the rapid progress made in the world of ocular
genetics. Genotype-phenotype correlations are made, novel mutations are
discovered, and new treatments are attempted on a continual basis. This ... Cited by 3 - Related articles - BL Direct - All 3 versions
- ►genetics.org BA Johnson, N Aoyama, NH Friedell, S Ikeda, … - Genetics, 2008 - Genetics Soc America X-linked retinoschisis (XLRS) is an inherited form of macular degeneration that
is caused by mutations in the retinoschisin (RS1) gene. In addition to macular
degeneration, other major characteristics of XLRS include splitting of the ... Cited by 3 - Related articles - BL Direct - All 6 versions
JS SUNNESS, JN STEINER - Retina, 2008 - journals.lww.com From *Richard E. Hoover Rehabilitation Services for Low Vi- sion and Blindness,
Greater Baltimore Medical Center; and the †Friedenwald Eye Institute, Maryland
General Hospital, Baltimore. Supported in part by NIH R03 EY14148, a ... Cited by 3 - Related articles - BL Direct - All 2 versions
A Sodi, I Passerini, F Simonelli, F Testa, U … - Journal français d'ophtalmologie, 2007 - ncbi.nlm.nih.gov Vitelliform macular dystrophy (Best disease) is an inherited macular
degeneration in which the primary defect is thought to occur at the level of the
retinal pigment epithelium. The VMD2 gene, considered responsible for the ... Cited by 4 - Related articles - BL Direct - All 2 versions
M Yu, NS Peachey - Documenta Ophthalmologica, 2007 - Springer Abstract Purpose To examine changes in inner retinal function of nob2 mice,
expressing a null mutation in Cacna1f encoding the Ca V 1.4 subunit of voltage-
dependent calcium channels. CACNA1F mutations underlie one form of ... Cited by 3 - Related articles - BL Direct - All 2 versions
