X-Linked Recessive Atrophic Macular Degeneration from RPGR Mutation
| ISSN: | 0888-7543 |
|---|---|
| DOI: | 10.1006/geno.2002.6815 |
| Přístupová URL adresa: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cd72b230c19cf29610d2ae0cff1120a https://doi.org/10.1006/geno.2002.6815 |
| Rights: | OPEN |
| Přírůstkové číslo: | edsair.doi.dedup.....5cd72b230c19cf29610d2ae0cff1120a |
| Autor: | Laura E. Kakuk, F. Yesim Demirci, Michael Boehnke, Jiafan Liu, Eve L. Bingham, Radha Ayyagari, Julia E. Richards, Paul A. Sieving, Heather M. Stringham, Michael B. Gorin |
| Rok vydání: | 2002 |
| Předmět: |
Adult
Male Heterozygote medicine.medical_specialty genetic structures Nonsense mutation Genes Recessive Biology Retina Macular Degeneration Cone dystrophy Ophthalmology Genetics medicine Humans Eye Proteins X-linked recessive inheritance Aged Aged 80 and over Chromosomes Human X Retinal pigment epithelium Gene therapy of the human retina Sequence Analysis DNA Retinitis pigmentosa GTPase regulator Middle Aged Macular degeneration Peripheral Retinal Degeneration medicine.disease eye diseases medicine.anatomical_structure Codon Nonsense Female sense organs Carrier Proteins |
| Zdroj: | Genomics. 80:166-171 |
| ISSN: | 0888-7543 |
| DOI: | 10.1006/geno.2002.6815 |
| Popis: | We mapped a new X-linked recessive atrophic macular degeneration locus to Xp21.1-p11.4 and show allelic involvement of the gene RPGR, which normally causes severe peripheral retinal degeneration leading to global blindness. Ten affected males whom we examined had primarily macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment. One additional male showed extensive macular degeneration plus peripheral loss of retinal pigment epithelium and choriocapillaries. Full-field electroretinograms (ERGs) showed normal cone and rod responses in some affected males despite advanced macular degeneration, emphasizing the dissociation of atrophic macular degeneration from generalized cone degenerations, including X-linked cone dystrophy (COD1). The RPGR gene nonsense mutation G-->T at open reading frame (ORF)15+1164 cosegregated with the disease and may create a donor splice site. Identification of an RPGR mutation in atrophic maculardegeneration expands the phenotypic range associated with this gene and provides a new tool for the dissection of the relationship between clinically different retinal pathologies. |
| Databáze: | OpenAIRE |
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