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
N Porter, SM Downes, C Fratter, P Anslow, … - Archives of Ophthalmology, 2007 - Am Med Assoc Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder
usually characterized by progressive early-onset ataxia. The most common
ophthalmic manifestation of FRDA is optic neuropathy, which is usually late ... Cited by 3 - Related articles - BL Direct - All 4 versions
B Pajic, M Weigell-Weber, I Schipper, C … - Retina, 2006 - journals.lww.com BOJAN PAJIC, MD,* MAIKE WEIGELL-WEBER, MD,† ISAAK SCHIPPER, MD,‡ CHRISTOPH
KRYENBU¨HL, MD,§ ERNST R. BU¨CHI, MD,¶ ROLAND SPIEGEL, MD,** MARTIN
HERGERSBERG, PHD†† ... Purpose: To report a complex mutation in the ... Cited by 1 - Related articles - BL Direct - All 2 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
DLC Isaac, RAV Santos, M Ávila - Arquivos Brasileiros de Oftalmologia, 2007 - SciELO Brasil Os autores apresentam um caso de distrofia macular em forma-de-borboleta,
diagnosticado em paciente do sexo masculino, apresentando concomitante atrofia
do epitélio pigmentado da retina e perda visual central em um dos olhos. ... Related articles - Cached - All 2 versions
S BARAZA, G DÍAZ - oftalmo.com Caso Clínico: Presentamos dos casos de distrofias patrón del epitelio
pigmentario retiniano. Destacamos el de una joven con flecos retinianos y un
déficit de agudeza visual inusual a edades tan tempranas. El segundo ... Related articles - Cached
DLC Isaac, RAV Santos, M Ávila - Arq. Bras. Oftalmol, 2007 - SciELO Brasil Os autores apresentam um caso de distrofia macular em forma-de-borboleta,
diagnosticado em paciente do sexo masculino, apresentando concomitante atrofia
do epitélio pigmentado da retina e perda visual central em um dos olhos. ... Related articles - Cached - All 5 versions