- ... Nonsyndromic Retinitis Pigmentosa Overview ; Sensorineural hearing loss and retinitis pigmentosa , see Usher Syndrome Type I and Usher Syndrome ...
- ... Trp75Cys and ASD, intellectual disability, epilepsy, and cataracts. Retinitis pigmentosa and peripheral neuropathy. An individual with the PEX7 ... had developmental delays and poor growth in childhood; retinitis pigmentosa and peripheral neuropathy developed in adolescence [ Braverman et ...
- ... same direction (strabismus) and an eye disorder called retinitis pigmentosa, which causes vision loss. Females with <html:i > ... condition may also develop an eye disorder called retinitis pigmentosa, in which breakdown of the light-sensitive layer ( ...
- ... IRD), which includes RPE65 -LCA/EOSRD and typical retinitis pigmentosa (RP type 20) [ Lloyd et al 2019 ] (see ... window Gene MOI Disorder Reference RPE65 AR Typical retinitis pigmentosa (RP type 20) 1 Nonsyndromic Retinitis Pigmentosa Overview ...
- ... https://medlineplus.gov/genetics/condition/neuropathy-ataxia-and-retinitis-pigmentosa</url><title >Neuropathy, ataxia, and retinitis pigmentosa</title>< ...
- ... 1 Nevo et al [2013] , Zlotogora [2015] CERKL Retinitis pigmentosa AR c.238+1G>A (IVS1+1G>A) -- ~ ... 000391 .1 Falik-Zaccai et al [2012] EYS Retinitis pigmentosa AR c.[403delA;406G>T;410_424del15] 8 ...
- ... renal anomalies & polydactyly "Leanest" of obesity phenotype Nonsyndromic retinitis pigmentosa BBS4 5.3% ↓ penetrance of renal anomalies Early- ... less "syndromic" w/↓ penetrance of renal anomalies Nonsyndromic retinitis pigmentosa ARL6 (BBS3) 5.1% Least "syndromic" w/low ...
- ... FAF = fundus autofluorescence; OCT = optical coherence tomography; RP = retinitis pigmentosa; RPE = retinal pigment epithelium; VA = visual acuity 1. Genes are listed alphabetically. 2. Retinitis pigmentosa may or may not be accompanied by Coats- ...
- ... subcapsular cataracts are similar to those observed in retinitis pigmentosa. Cystoid macular edema has been reported. Heterozygous females ... Overlapping Features Distinguishing Features ~80 genes 1 Nonsyndromic retinitis pigmentosa (RP) AD AR XL 3 The symptoms of ...
- ... retinal degeneration that fall under the category of retinitis pigmentosa and allied disorders, namely: reduced visual acuity, poor ... similar to those of individuals with autosomal recessive retinitis pigmentosa . The presenting symptom, rate of disease progression, and ...
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