- ►bmj.com BJ Klevering, M van Driel, AJM van … - British Medical Journal, 2002 - bjo.bmj.com Methods: The members of three unrelated families who demonstrated the rare
combination of CACD and dominant drusen were clinically and angiographically
investigated. In addition, DNA samples from the members of these families ... Cited by 7 - Related articles - BL Direct - All 7 versions
CN Keilhauer, T Meigen, H Stöhr, BHF Weber - Ophthalmic Genetics, 2006 - informahealthcare.com Mutations in the peripherin/RDS gene have been identified in families with
various retinopathies including those affecting primarily the macula and those
restricted to the retinal periphery. Here, we describe the clinical ... Cited by 2 - Related articles - BL Direct - All 6 versions
S Yanagihashi, M Nakazawa, J Kurotaki, M … - Archives of Ophthalmology, 2003 - archopht.highwire.org Increased numbers of mutations in the peripherin/RDS (retinal degeneration slow)
gene have been identified in families with autosomal dominant retinitis
pigmentosa 1 and several kinds of macular dystrophy. 2 In this study, we ... Cited by 12 - Related articles - BL Direct - All 5 versions
CN Keilhauer, T Meigen, BHF Weber - Archives of Ophthalmology, 2006 - archopht.highwire.org Methods Sixteen members from 2 generations underwent ophthalmologic examination,
including best-corrected visual acuity, examination of the anterior segments,
and inspection of the ocular fundus after pharmacologic mydriasis. All ... Cited by 3 - Related articles - All 5 versions
LA Donoso, G Hageman, A Frost, V Sheffield, … - Canadian journal of ophthalmology, 2003 - cat.inist.fr Contexte: Nous avons étudié le cas d'une grande famille canadienne(en tout 178
membres) englobant sept générations, marquée d'une dystrophie maculaire sur
mode autosomique dominant. L'étude avait pour objet d'identifier la ... Cited by 4 - Related articles - BL Direct - All 3 versions
CB Hoyng, P Heutink, L Testers, A Pinckers, … - American journal of ophthalmology, 1996 - cat.inist.fr . PURPOSE: Because several macular dystrophies are caused by mutations in the
peripherin/RDS gene, we examined autosomal dominant and sporadic cases of
central areolar choroidal dystrophy for mutations in the peripherin/RDS ... Cited by 32 - Related articles - BL Direct - All 3 versions
- ►nih.gov CJF Boon, BJ Klevering, CB Hoyng, MN … - The American Journal of Human Genetics, 2008 - Elsevier Age-related macular degeneration (AMD) is a multifactorial disease that is
strongly associated with the Tyr402His variant in the complement factor H (CFH)
gene. Drusen are hallmark lesions of AMD and consist of focal-inflammatory ... Cited by 7 - Related articles - BL Direct - All 10 versions
B Guigui, O Semoun, G Querques, G Coscas, … - Retinal Cases and Brief Reports, 2009 - journals.lww.com Central areolar choroidal dystrophy (CACD) is an inherited autosomal dominant
macular disease. Diagnosis of CACD is clinical, based on fundus ex- amination
and fluorescein angiography (FA) features1 and described in 1977 by Noble.2 ... Related articles
