ArticleAmerican journal of ophthalmology case reports2019
Isolated rod dysfunction associated with a novel genotype of
Article in American journal of ophthalmology case reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
9 citing papers in PubMed, 13 citations in OpenAlex.
- A Phenotypic Study of CRB1 Retinopathy Secondary to the Variant p.(Pro836Thr) Prevalent in Those of Black African Ancestry.Investigative ophthalmology & visual science · 2025Article
- Clinical and Biochemical Characterization of Specific GUCY2D Alleles Associated With a Rare Form of Night Blindness.Investigative ophthalmology & visual science · 2025Article
- Monogenic Retinal Diseases Associated With Genes Encoding Phototransduction Proteins: A Review.Clinical & experimental ophthalmology · 2025Review
- CNG channel-related retinitis pigmentosa.Vision research · 2023Article
- Biology, Pathobiology and Gene Therapy of CNG Channel-Related Retinopathies.Biomedicines · 2023Review
- The Natural History ofInternational journal of molecular sciences · 2022Article
- CNGB1-related rod-cone dystrophy: A mutation review and update.Human mutation · 2021Review
- Clinical and Genetic Characteristics of Korean Congenital Stationary Night Blindness Patients.Genes · 2021Article
- Awareness of olfactory impairment in a cohort of patients with CNGB1-associated retinitis pigmentosa.Eye (London, England) · 2020Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo describe the clinical and electrophysiological features of an unusual retinopathy in a patient with a novel genotype of OBSERVATIONS: A 61-year old asymptomatic woman was referred to the inherited retinal disorders clinic because of peripheral retinal pigmentary changes. She had normal visual acuity and color vision. Clinical examination and detailed imaging of the macula were normal, but there was atrophy of the outer retina in the periphery with sparse intra-retinal pigmentation. Electroretinography (ERG) revealed undetectable rod responses, with normal cone-mediated responses. The pattern ERG was normal. Genetic analysis identified two previously unreported variants in CONCLUSIONS AND IMPORTANCE: This report describes a functionally cone-isolated retina in an adult, apparently hemizygous for a novel missense mutation in
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