ArticleThe British journal of ophthalmology2003
Genetic linkage analysis of a novel syndrome comprising North Carolina-like macular dystrophy and progressive sensorineural hearing loss.
Article in The British journal of ophthalmology, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 31 citations in OpenAlex.
- Comments on "The possible pathogenesis of macular caldera in patients with North Carolina macular dystrophy".BMC ophthalmology · 2023Article
- Letter to the Editor Regarding: "Modern diagnostic and therapeutic approaches in familial maculopathy with reference to North Carolina macular dystrophy" by Jana Nekolova et al.Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia · 2023Article
- A novel tandem duplication of PRDM13 in a Chinese family with North Carolina macular dystrophy.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2022Article
- RNA sequencing uncovers the key microRNAs potentially contributing to sudden sensorineural hearing loss.Medicine · 2017Article
- Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia.Human molecular genetics · 2011Article
- Clinical and genetic characterization of a Danish family with North Carolina macular dystrophy.Molecular vision · 2010Article
- A novel locus on 19q13 associated with autosomal-dominant macular dystrophy in a large Greek family.Journal of medical genetics · 2006Article
- The genetics of inherited macular dystrophies.Journal of medical genetics · 2003Review
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
aimTo characterise the phenotype and identify the underlying genetic defect in a family with deafness segregating with a North Carolina-like macular dystrophy (NCMD).
methodsDetails of the family were obtained from the Moorfields Eye Hospital genetic clinic database and comprised eight affected, four unaffected members, and two spouses. Pedigree data were collated and leucocyte DNA extracted from venous blood. Positional candidate gene and genetic linkage strategies utilising polymerase chain reaction (PCR) based microsatellite marker genotyping were performed to identify the disease locus.
resultsThe non-progressive ocular phenotype shared similarities with North Carolina macular dystrophy. Electro-oculography and full field electroretinography were normal. Progressive sensorineural deafness was also present in all affected individuals over the age of 20 years. Hearing was normal in all unaffected relatives. Haplotype analysis indicated that this family is unrelated to previously reported families with NCMD. Genotyping excluded linkage to the MCDR1 locus and suggested a potential novel disease locus on chromosome 14q (Z=2.92 at theta=0 for marker D14S261).
conclusionThe combination of anomalies segregating in this family represents a novel phenotype. This molecular analysis indicates the disease is genetically distinct from NCMD.
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