Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene

Investigative Ophthalmology and Visual Science

Volumn 49, Issue 12, 2008, Pages 5532-5539

  Sandberg, Michael A ^a   Rosner, Bernard ^a   Weigel DiFranco, Carol ^a   McGee, Terri L ^a   Dryja, Thaddeus P ^a   Berson, Eliot L ^a  

^a MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; GENE PRODUCT; GLUTAMINE; REGULATOR PROTEIN; RETINITIS PIGMENTOSA GTPASE REGULATOR; RHODOPSIN; UNCLASSIFIED DRUG; USHERIN; EYE PROTEIN; RPGR PROTEIN, HUMAN; SCLEROPROTEIN; USH2A PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE COURSE; ELECTRORETINOGRAPHY; FEMALE; GENE; GENE MUTATION; GENETIC ASSOCIATION; HEARING LOSS; HUMAN; MAJOR CLINICAL STUDY; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SCHOOL CHILD; USH2A GENE; USHER SYNDROME; VISUAL ACUITY; VISUAL FIELD; X CHROMOSOME LINKED DISORDER; ALLELE; BLINDNESS; FOLLOW UP; GENETICS; GENOTYPE; MIDDLE AGED; MUTATION; OPTICAL COHERENCE TOMOGRAPHY; PATHOPHYSIOLOGY; PHYSIOLOGY; RECESSIVE GENE;

ADOLESCENT; ADULT; ALLELES; BLINDNESS; CHILD; DISEASE PROGRESSION; ELECTRORETINOGRAPHY; EXTRACELLULAR MATRIX PROTEINS; EYE PROTEINS; FOLLOW-UP STUDIES; GENES, RECESSIVE; GENOTYPE; HUMANS; MIDDLE AGED; MUTATION; RETINITIS PIGMENTOSA; RHODOPSIN; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; VISUAL FIELDS; YOUNG ADULT;

EID: 58149243060     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.08-2009     Document Type: Article

References (14)

1. Dryja TP, McEvoy JA, McGee TL, Berson EL. Novel rhodopsin mutations Gly114Val and Gln184Pro in dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2000;41:3124-3127. (Pubitemid 30691955)
2. Sharon D, Sandberg MA, Rabe VW, et al. RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. Am J Hum Genet. 2003;73:1131-1146. (Pubitemid 37414225)
3. Seyedahmadi BJ, Rivolta C, Keene JA, et al. Comprehensive screening of the USH2A gene in Usher syndrome type II and nonsyndromic recessive retinitis pigmentosa. Exp Eye Res. 2004;79:167-173. (Pubitemid 39127430)
4. Sandberg MA, Rosner B, Weigel-DiFranco C, et al. Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations. Invest Ophthalmol Vis Sci. 2007;48:1298-1304. (Pubitemid 351261427)
5. Eudy JD, Weston MD, Yao S, et al. Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science. 1998;280:1753-1757. (Pubitemid 28283499)
6. Weston MD, Eudy JD, Fujita S, et al. Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. Am J Hum Genet. 2000;66:1199-1210. (Pubitemid 30468777)
7. van Wijk E, Pennings RJ, te Brinke H, et al. Identification of 51 novel exons on the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. Am J Hum Genet. 2004;74:738-744.
8. Dreyer B, Tranebjaerg L, Brox V, et al. A common ancestral origin of the frequent and widespread 2299delG USH2A mutation. Am J Hum Genet. 2001;69:228-234. (Pubitemid 32614036)
9. Rivolta C, Sweklo EA, Berson EL, Dryja TP. Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. Am J Hum Genet. 2000;66:1975-1978. (Pubitemid 30480105)
10. Bernal S, Ayuso C, Antinolo G, et al. Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation. J Med Genet. 2003;40:e8.
11. Sandberg MA, Brockhurst RJ, Gaudio AR, Berson EL. The association between visual acuity and central retinal thickness in retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2005;46:3349-3354.
12. Pennings RJE, Huygen PLM, Orten DJ, et al. Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a. Acta Ophthalmol Scand. 2004;82:131-139. (Pubitemid 38515365)
13. Fishman GA, Bozbeyoglu S, Massof RW, Kimberling W. Natural course of visual field loss in patients with Type 2 Usher syndrome. Retina. 2007;27:601-608. (Pubitemid 46905152)
14. Witkin AJ, Ko TH, Fujimoto JG, et al. Ultra-high resolution optical coherence tomography assessment of photoreceptors in retinitis pigmentosa and related diseases. Am J Ophthalmol. 2006;142:945-952.