MA Reddy, PJ Francis, V Berry, K Bradshaw, RJ … - British Journal of …, 2003 - bjo.bmj.com Results: The disorder is inherited as an autosomal dominant trait with variable expressivity and
has a complex phenotype. Affected individuals had bilateral microcornea, pulverulent-like lens
opacities, a rod-cone dystrophy and posterior staphyloma (MRCS). Using a positional ... Cited by 5 - Related articles - BL Direct - All 9 versions
CJF Boon - dare.ubn.kun.nl Het drukken van dit proefschrift werd mede mogelijk gemaakt dankzij een financiële bijdrage
van: Radboud Universiteit Nijmegen, Stichting Researchfonds Oogheelkunde, Rotterdamse
Blindenbelangen, Landelijke Stichting voor Blinden en Slechtzienden (LSBS), Stichting ... Related articles - All 2 versions
LY Zhang, GHF Yam, POS Tam, RYK Lai, DSC … - Molecular …, 2009 - pubmedcentral.nih.gov A three-generation Chinese family with members having autosomal dominant cataract and microcornea
was recruited. Genomic DNA from peripheral blood or buccal swab samples of five affected and
five unaffected members were obtained. Based on 15 genes known to cause autosomal ... Related articles - All 5 versions
M Michaelides, J Urquhart, GE Holder, M Restori, N … - American journal of …, 2006 - Elsevier A 12-year-old boy was identified with bilateral microcornea, rod-cone dystrophy, congenital
cataracts, and posterior staphylomata associated with high myopia (MRCS). Mutation screening
failed to identify disease-causing sequence variants in VMD2, the gene associated with ... Related articles - All 5 versions
B Lafaut, B Loeys, B Leroy, W Spileers, J De Laey, … - Graefe's Archive for …, 2001 - Springer Abstract Purpose: To report the clinical and electrophysiological find- ings in a three-generation
pedigree with autosomal dominant vitreore- tinochoroidopathy. Methods: Sixteen members of
a three- generation pedigree with autosomal dominant vitreoretinochoroidopathy were ... Cited by 7 - Related articles - BL Direct - All 5 versions
C Furino, F Boscia, N Cardascia, L Sborgia, C … - …, 2008 - content.karger.com Aim: We investigated fundus autofluorescence (FA) patterns and tomographic retinal changes
by means of optical coherence tomography (OCT 3) in adult-onset foveomacular vitelliform dystrophy
(AOFVD) and their possible correlation with best-corrected visual acuity (BCVA). ... Cited by 1 - Related articles - All 4 versions
GA FISHMAN - Retina, 2005 - journals.lww.com An orphan disease is defined in the United States as a medical condition affecting fewer than
200,000 individuals. Six hundred orphan diseases affect an estimated 25 million Americans,
or 9% of the popu- lation. Eighty percent of these rare diseases are ge- netic. Virtually all ... Cited by 1 - Related articles - BL Direct - All 2 versions
SE Moroi, JR Heckenlively - Ophthalmology, 2008 - Elsevier Currently, we know that each cell has about 30,000 “nuclear” genes distributed on 46 chromosomes
(ie, 22 pairs of autosomes and 1 pair sex chromosomes) and 37 “mitochondrial” genes encoded
in the circular mitochondrial DNA that is passed maternally. Genetic linkage-based ... Cited by 1 - Related articles - All 11 versions
IA Barbazetto, NA Yannuzzi, CM Klais, JE … - Ophthalmic …, 2007 - informahealthcare.com Purpose: The etiology and genetic cause of pseudo-vitelliform macular detachment with cuticular
drusen (PVMD/CD) are unknown; nor is it clear if this phenotype represents a separate disease
entity, or is a sub-phenotype of disorders with overlapping clinical presentation. To ... Cited by 1 - Related articles - BL Direct - All 6 versions
- ►iovs.org [PDF] RA Radu, Q Yuan, J Hu, JH Peng, M Lloyd, S … - … Ophthalmology & Visual …, 2008 - ARVO Page 1. −1− Vitamin A Supplementation Accelerates Lipofuscin Accumulation in
the Retinal Pigment Epithelium of a Mouse Model for ABCA4-mediated Inherited
Retinal Dystrophies Roxana A. Radu 1 , Quan Yuan 1 , Jane ... Cited by 1 - Related articles
