ArticleArchives of ophthalmology (Chicago, Ill. : 1960)2012
Clinical characteristics of a large choroideremia pedigree carrying a novel CHM mutation.
Article in Archives of ophthalmology (Chicago, Ill. : 1960), 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 39 citations in OpenAlex.
- Independent Degeneration of Photoreceptors and Retinal Pigment Epithelium: Multimodal Imaging Evidence From Choroideremia Carriers.Investigative ophthalmology & visual science · 2026Article
- Outer retinal tubulation associated with photoreceptor degeneration.Progress in retinal and eye research · 2026Review
- Choroideremia Carriers: Dark-Adapted Perimetry and Retinal Structures.Investigative ophthalmology & visual science · 2022Article
- Structural Confirmation of Lymphatic Outflow from Subconjunctival Blebs of Live Human Subjects.Ophthalmology science · 2021Article
- Functional, structural, and molecular identification of lymphatic outflow from subconjunctival blebs.Experimental eye research · 2020Article
- Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses.BMC ophthalmology · 2020Article
- Age- and refraction-related changes in anterior segment anatomical structures measured by swept-source anterior segment OCT.PloS one · 2020Observational
- CHOROIDEREMIA: Retinal Degeneration With an Unmet Need.Retina (Philadelphia, Pa.) · 2019Review
- Patterns and Intensities of Near-Infrared and Short-Wavelength Fundus Autofluorescence in Choroideremia Probands and Carriers.Investigative ophthalmology & visual science · 2019Article
- Choroideremia: Update On Clinical Features And Emerging Treatments.Clinical ophthalmology (Auckland, N.Z.) · 2019Review
- Wide-field fundus autofluorescence imaging in patients with hereditary retinal degeneration: a literature review.International journal of retina and vitreous · 2019Review
- Structural and functional imaging of aqueous humour outflow: a review.Clinical & experimental ophthalmology · 2018Review
- Retinal dystrophy and subretinal drusenoid deposits in female choroideremia carriers.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2017Article
- Natural History of the Central Structural Abnormalities in Choroideremia: A Prospective Cross-Sectional Study.Ophthalmology · 2017Article
- Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy.Molecular genetics & genomic medicine · 2016Article
- Liver X receptors balance lipid stores in hepatic stellate cells through Rab18, a retinoid responsive lipid droplet protein.Hepatology (Baltimore, Md.) · 2015Article
- Comparative analysis of the domestic cat genome reveals genetic signatures underlying feline biology and domestication.Proceedings of the National Academy of Sciences of the United States of America · 2014Article
- eyeGENE®: a vision community resource facilitating patient care and paving the path for research through molecular diagnostic testing.Clinical genetics · 2013Article
- Sources of structural autofluorescence in the human trabecular meshwork.Investigative ophthalmology & visual science · 2013Article
- Wide field imaging biomarkers: A different perspective.Taiwan journal of ophthalmologyReview
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
objectiveTo describe a large family with a novel mutation in CHM.
methodsFamily members were characterized using clinical examination, wide-field fundus photography, wide-field autofluorescence, and spectral domain optical coherence tomography. The CHM mutation was identified with the National Institutes of Health-sponsored eyeGene program.
resultsA novel nonsense CHM mutation (T1194G), resulting in a premature stop (Y398X) and loss of the final one-third C-terminal portion of the protein, was identified. A large pedigree was generated from information provided by the twice-married proband. Seven men (aged 27-39 years) and 7 women (aged 22-89 years) were evaluated. Affected men showed characteristic peripheral chorioretinal atrophy with islands of macular sparing. Female carriers exhibited a wide range of variability, from mild pigmentary alterations to significant chorioretinal atrophy with severe vision loss. Older women tended to have a more severe phenotype. Autofluorescence demonstrating subfoveal loss or absence of retinal pigment epithelium correlated with vision loss in both sexes. Spectral domain optical coherence tomography demonstrated dynamic changes and remodeling of the outer retina over time, including focal thickening, drusenlike deposits, and disruption to photoreceptor inner segment and outer segment junctions in young female carriers.
conclusionsCHM (T1194G) is a novel mutation that manifests a wide range of phenotypic variability in a single family with a trend toward more severe phenotypes in older female carriers. Our findings emphasize the importance of considering X-linked diseases by carefully evaluating pedigrees in women with severe manifestations of disease. CLINICAL RELEVANCE: These findings demonstrate a novel CHM mutation that emphasizes severe posterior pole carrier phenotypes, age-related changes, and early choroideremia disease.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.