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Scholar Results 1 - 10 of about 101 related to Francis: Genetic linkage analysis of a novel syndrome comprising North Carolina-like macular.... (0.11 sec) 

Genetic linkage analysis of a novel syndrome comprising North Carolina-like macular …

- nih.gov
PJ Francis, S Johnson, B Edmunds, RE Kelsell … - British Journal of Ophthalmology, 2003 - bjo.bmj.com
Results: The non-progressive ocular phenotype shared similarities with North
Carolina macular dystrophy. Electro-oculography and full field
electroretinography were normal. Progressive sensorineural deafness was ...
Cited by 8 - Related articles - BL Direct - All 7 versions

An early-onset autosomal dominant macular dystrophy (MCDR3) resembling North …

- iovs.org
M Michaelides, S Johnson, AK Tekriwal, GE … - Investigative ophthalmology & visual science, 2003 - ARVO
RESULTS. The retinal changes have an early age of onset and are confined to the
macular region. The macular abnormalities vary from mild retinal pigment
epithelium (RPE) pigmentary change to atrophy. Drusen-like deposits are ...
Cited by 12 - Related articles - BL Direct - All 5 versions

Phenotype of a British North Carolina macular dystrophy family linked to chromosome 6q

- nih.gov [PDF]  - Free from Publisher
MB Reichel, RE Kelsell, J Fan, CY Gregory, K … - British Journal of Ophthalmology, 1998 - bjo.bmj.com
RESULTS Every affected family member had lesions characteristic of NCMD, which
developed early in life and usually remain stable thereafter. Although fundus
changes are evident in the periphery, all tests revealed that functional ...
Cited by 13 - Related articles - BL Direct - All 8 versions

An autosomal dominant bull's-eye macular dystrophy (MCDR2) that maps to the short arm …

- iovs.org
M Michaelides, S Johnson, A Poulson, K … - Investigative ophthalmology & visual science, 2003 - ARVO
RESULTS. The phenotype is characterized by bull's-eye macular dystrophy first
evident in the first or second decade of life. There is mild visual impairment,
central scotomata, and electrophysiological testing indicates that most ...
Cited by 12 - Related articles - BL Direct - All 4 versions

Clinical spectrum of chromosome 6–linked autosomal dominant drusen and macular …


ST Stefko, K Zhang, MB Gorin, EI Traboulsi - American journal of ophthalmology, 2000 - Elsevier
RESULTS: Twelve family members had drusen and/or atrophic macular degeneration.
The disease in asymptomatic young adults is characterized by fine drusen that
are most conspicuous in the macula. The proband presented at 3 years of age ...
Cited by 7 - Related articles - BL Direct - All 10 versions

An inherited central retinal pigment epithelial dystrophy.


R Klein, G Bresnick - Birth defects original article series, 1982 - ncbi.nlm.nih.gov
This report describes three generations of one family in which a mother and
three of her children were affected by an unusual bilateral symmetrical atrophy
of the retinal pigment epithelium in the macular area. All members of the ...
Cited by 8 - Related articles - All 2 versions

A Reappraisal of the Clinical Spectrum of North Carolina Macular Dystrophy


RN Khurana, X Sun, E Pearson, Z Yang, J … - Ophthalmology, 2009 - Elsevier
Copyright © 2009 American Academy of Ophthalmology Published by Elsevier Inc.
... To characterize the clinical phenotypes and genotype of a large family with
North Carolina macular dystrophy (NCMD). ... Thirteen participants who ...
Related articles - All 8 versions

A novel locus on 19q13 associated with autosomal-dominant macular dystrophy in a large …


Z Yang, G Kitsos, Z Tong, M Payne, S Gorezis … - British Medical Journal, 2006 - jmg.bmj.com
Kamaya, G Aperis, MB Petersen and K Zhang Z Yang, G Kitsos, Z Tong, M Payne, S
Gorezis, K Psilas, M Grigoriadou, Y Zhao, S ... Greek family autosomal-dominant
macular dystrophy in a large A novel locus on 19q13 associated with
Related articles - All 2 versions

Childhood macular dystrophies


AT Moore - Current Opinion in Ophthalmology, 2009 - journals.lww.com
Introduction Childhood macular dystrophies are a genetically hetero- geneous
group of disorders associated with, usually pro- gressive, macular dysfunction.
Mostly present in early teens with central visual loss but there is an ...
Related articles - All 3 versions

[CITATION] Pattern Dystrophies


MB Reichel, RE Kelsell, J Fan… - Diseases of the Ocular Fundus, 2005 - Mosby Inc
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