ArticleOphthalmic genetics2021
Variable expressivity in patients with autosomal recessive retinitis pigmentosa associated with the gene
Article in Ophthalmic genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 9 citations in OpenAlex.
- Losing, preserving, and restoring vision from neurodegeneration in the eye.Current biology : CB · 2023Review
- cGMP Signaling in Photoreceptor Degeneration.International journal of molecular sciences · 2023Review
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- Adherent but Not Suspension-Cultured Embryoid Bodies Develop into Laminated Retinal Organoids.Journal of developmental biology · 2021Article
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
Abstract
purposeIn a cohort of eight families (11 patients) with autosomal recessive retinitis pigmentosa (arRP), we clinically characterized disease associated with mutations in
methodsVisual function was determined by measuring the patients' visual acuity, dark- and light-adapted perimetry, and by full-field electroretinography. Retinal structure was evaluated with spectral-domain optical coherence tomography, fundus imaging, and autofluorescence imaging.
resultsAge of onset ranged from 4 to 49 years (mean [SD] 26 [17], median 27 years). The age at visit was 27-54 years, mean 37 (17). The range of visual acuity was logMAR -0.1 to 1.3 (Snellen 20/16 to 20/400) in the right eye and -0.1 to 0.9 (Snellen 20/16 to 20/160) in the left eye. Electrophysiological testing in five patients showed an absence of the rod response. Cone responses ranged from normal to severely reduced. The patients exhibited loss of rod vision more severe than cone vision. Funduscopic images showed widespread retinal degeneration with pigment clumping, optic disk pallor, arteriole attenuation, and a peri-foveal ring of hyper autofluorescence. Three families were tested for olfactory dysfunction and results indicated mild to complete anosmia in individuals with mutations in DISCUSSION: This is the first report for six novel
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