PJ Francis, DW Schultz, AM Gregory, MB Schain, … - British Journal of …, 2005 - bjo.bmj.com Results: In each of the six families with autosomal dominant PD, a mutation in the
peripherin/RDS gene was identified, including a novel Cys250Phe variant. These data suggest
that the condition is characterised by the accumulation of yellow to grey subretinal flecks, ... Cited by 7 - Related articles - BL Direct - All 9 versions
U Thomann, ER Büchi, M Suppiger, C Kryenbühl, … - European journal of … - ncbi.nlm.nih.gov We studied a family with pattern dystrophy of the retina (PDR) in order to elucidate the clinical
course of the disorder, relations between the different forms, and the mode of inheritance.
Thirty-nine family members, representing three generations, underwent a thorough ... Cited by 5 - Related articles - All 2 versions
JJ Van Lith-Verhoeven, FP Cremers, B van den Helm, … - Mol Vis, 2003 - molvis.org Purpose: Butterfly-shaped macular dystrophy (BSMD) has so far only been associated with mutations
in the peripherin/RDS gene. The initial aim of our study was to investigate the peripherin/RDS
gene as the causative gene in a family with BSMD. Subsequently the putative ... Cited by 10 - Related articles - Cached - All 3 versions
M Weigell-Weber, C Kryenbuhl, ER Buchi, R Spiegel - Mol Vis, 1996 - molvis.org Purpose: Mutations in the retinal degeneration slow (RDS)/peripherin gene have been shown
to be associated with pattern dystrophy of the retina (PDR) and other retinal dystrophies. The
aim of our study was to confirm or exclude the RDS locus and the rhodopsin (RHO) locus ... Cited by 5 - Related articles - Cached - All 3 versions
JE Sears, TA Aaberg, SP Daiger, DM Moshfeghi - American journal of …, 2001 - Elsevier RESULTS : The pedigree of four affected siblings suggested probable autosomal dominance
transmission of pattern dystrophy. In the four siblings, best corrected visual acuity ranged from
20/20 to 20/80 by Snellen chart. Clinical findings included discrete, localized ... Cited by 10 - Related articles - BL Direct - All 13 versions
JJC van Lith-Verhoeven, B van den Helm, AF … - Archives of …, 2003 - Am Med Assoc Results The age at onset of the disease was between the third and fourth decades of life, starting
with mild visual acuity loss and periods of metamorphopsia. Clinical signs included subretinal
yellowish macular deposits evolving into geographic atrophy and retinal ... Cited by 2 - Related articles - BL Direct - All 5 versions
MJ Trujillo, J Bueno, A Osorio, R Sanz, B Garcia- … - Human …, 1998 - interscience.wiley.com Among 43 unrelated Spanish patients affected with autosomal dominant (AD) photoreceptor
disorders a study of RDS-peripherin gene was performed. We found three different unreported
mutations 689delT, 857del17, corresponding to two macular dystrophy families and ... Cited by 7 - Related articles - BL Direct - All 2 versions
AO Saatci, ZO Yasti, S Köse, B Memişoglu - Acta Ophthalmologica …, 1998 - ncbi.nlm.nih.gov PURPOSE: To report a case with butterfly-like pattern dystrophy and unilateral subretinal neovascular
membrane. RESULTS: We examined a 62-year-old woman with occult subretinal neovascular
membrane in the right eye and butterfly-like yellowish figure in the retina confined to the ... Cited by 7 - Related articles - BL Direct - All 4 versions
