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62 Possible Causes for Mutation in the NRL Gene, Progressive Peripapillary Chorioretinal Atrophy

  • Retinitis Pigmentosa 27
  • Retinitis Pigmentosa 32

    Autosomal dominant retinitis pigmentosa has been associated with mutations in the following genes: ABCA4, AIPL1, BEST1, CA4, CRX, FSCN2, GUCA1B, IMPDH1, KLHL7, NR2E3, NRL,[bredagenetics.com] […] visual impairment (if the macula is affected) Diagnostics Fundoscopy: whitish elongation of foci in the peripapillary region and at the posterior pole caused by chorioretinal[amboss.com] An additional, unconfirmed autosomal dominant form may be caused by mutation in the ARL3 gene.[bredagenetics.com]

  • Goldmann-Favre Syndrome

    Several Moroccan families have been reported with homozygous or compound heterozygous mutations in the NRL gene ( 162080 ).[disorders.eyes.arizona.edu] METHODS: The coding regions of the NR2E3 and NRL genes and part of the THRB1 coding region were scanned for mutations using single-strand conformation and direct sequencing[ncbi.nlm.nih.gov] Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome . Genes (Basel). 2018 Jan 30;9(2). pii: E68. doi: 10.3390/genes9020068.[disorders.eyes.arizona.edu]

    Missing: Progressive Peripapillary Chorioretinal Atrophy
  • Glaucoma

    Results Mutational analysis Sequence analysis of the coding regions of the 10 selected positional and functional candidate genes ( ADCY4, BCL2L2, DAD1, ISGF3G, MMP14, NRL,[doi.org]

    Missing: Progressive Peripapillary Chorioretinal Atrophy
  • Pigmented Paravenous Retinochoroidal Atrophy

    ) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes[orpha.net] atrophy: pericentral pigmentary retinopathy, helicoid peripapillary chorioretinal degeneration, serpiginous choroidopathy, gyrate atrophy chorioderemia, sarcoidosis, syphilis[eyewiki.org] . • Case 1 shows the progression of a patient with high myopia and pathologic chorioretinal atrophy.[reviewofoptometry.com]

    Missing: Mutation in the NRL Gene
  • Retinitis Pigmentosa

    Deactivating either Nrl or Nr2e3 reprogrammed rod cells to become cone cells. “Cone cells are less vulnerable to the genetic mutations that cause RP,” said Zhang.[health.ucsd.edu] Except for mutation in a few genes that can cause both autosomal dominant and recessive forms of RP ( NRL, RP1 and, exceptionally, RHO ), most genes involved in the disease[doi.org] “Our strategy was to use gene therapy to make the underlying mutations irrelevant, resulting in the preservation of tissue and vision.”[health.ucsd.edu]

    Missing: Progressive Peripapillary Chorioretinal Atrophy
  • Lafora Disease

    […] pigmentosa (autosomal dominant) Mutation panel in genes CA4, FSCN2, IMPDH1, NRL, PRPF3, PRPF31, PRPF8, RDS, RHO, ROM1, RP1, RP9, CRX, TOPORS and PNR Retinitis pigmentosa ([pentacorelab.hu] […] by MLPA Retinitis pigmentosa (autosomal dominant) Sanger Sequencing of the RHO gene Retinitis pigmentosa (autosomal dominant) Sanger Sequencing of the RP1 gene Retinitis[pentacorelab.hu] Pigmentosa Sanger Sequencing of the ABCA4 gene Retinitis Pigmentosa Sanger Sequencing of the RPGR gene Retinitis Pigmentosa Detection of deletions and/or duplications in USH2A gene[pentacorelab.hu]

    Missing: Progressive Peripapillary Chorioretinal Atrophy
  • Oculopharyngeal Muscular Dystrophy

    […] in two linked genes: PABPN1 and NRL.[ncbi.nlm.nih.gov] […] in the PABPN1 and NRL Genes. ( 28590779 ) Braverman I....Ben-Yosef T. 2017 17 Novel mouse models of oculopharyngeal muscular dystrophy (OPMD) reveal early onset mitochondrial[malacards.org] Here we investigated the prevalence of the NRL mutation among BJs with OPMD.[ncbi.nlm.nih.gov]

    Missing: Progressive Peripapillary Chorioretinal Atrophy
  • Spondylocostal Dysostosis

    […] pigmentosa (autosomal dominant) Mutation panel in genes CA4, FSCN2, IMPDH1, NRL, PRPF3, PRPF31, PRPF8, RDS, RHO, ROM1, RP1, RP9, CRX, TOPORS and PNR Retinitis pigmentosa ([pentacorelab.hu] […] by MLPA Retinitis pigmentosa (autosomal dominant) Sanger Sequencing of the RHO gene Retinitis pigmentosa (autosomal dominant) Sanger Sequencing of the RP1 gene Retinitis[pentacorelab.hu] Pigmentosa Sanger Sequencing of the ABCA4 gene Retinitis Pigmentosa Sanger Sequencing of the RPGR gene Retinitis Pigmentosa Detection of deletions and/or duplications in USH2A gene[pentacorelab.hu]

    Missing: Progressive Peripapillary Chorioretinal Atrophy
  • Degenerative Disorder

    Except for mutation in a few genes that can cause both autosomal dominant and recessive forms of RP ( NRL, RP1 and, exceptionally, RHO ), most genes involved in the disease[doi.org] Etiology Causative genes Non syndromic RP are genetic disorders inherited as mendelian traits in most cases.[doi.org] There are also some rare RP cases due to mitochondrial DNA mutations [ 21 ] and to digenic diallelic inheritance involving RDS and ROM1 genes [ 22 ].[doi.org]

    Missing: Progressive Peripapillary Chorioretinal Atrophy

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