Histologic study of retinitis pigmentosa due to a mutation in the RP13 gene (PRPC8): Comparison with rhodopsin Pro23His, Cys110Arg, and Glu181Lys

American Journal of Ophthalmology

Volumn 137, Issue 5, 2004, Pages 946-948

  To, King ^a   Adamian, Michael ^a   Berson, Eliot L ^a,b  

^a MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

^b Berman Gund Laboratory   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYSTEINE; GLUTAMINE; HISTIDINE; LYSINE; PROLINE; RHODOPSIN;

ARTICLE; AUTOPSY; AUTOSOMAL DOMINANT INHERITANCE; CELL DEATH; CELL INCLUSION; CONTROLLED STUDY; ELECTRON MICROSCOPY; EVALUATION; GENE MUTATION; GENETIC DISORDER; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; PHOTORECEPTOR CELL; PRIORITY JOURNAL; RETINA CONE; RETINA ROD; RETINITIS PIGMENTOSA;

AGED; AGED, 80 AND OVER; CARRIER PROTEINS; GENES, DOMINANT; HUMANS; MIDDLE AGED; MUTATION, MISSENSE; PHOTORECEPTORS, VERTEBRATE; RETINITIS PIGMENTOSA; RHODOPSIN;

EID: 2342574960     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajo.2003.10.047     Document Type: Article

References (5)

1. Szamier R.B., Berson E.L. Retinal ultrastructure in advanced retinitis pigmentosa. Invest Ophthalmol Vis Sci. 16:1977;947-962
2. To K., Adamian M., Dryja T.P., Berson E.L. Retinal histopathology of an autopsy eye with advanced retinitis pigmentosa in a family with rhodopsin Glu181Lys. Am J Ophthalmol. 130:2000;790-792
3. To K., Adamian M., Dryja T.P., Berson E.L. Histopathologic study of variation in severity of retinitis pigmentosa due to the dominant rhodopsin mutation Pro23His. Am J Ophthalmol. 134:2002;290-293
4. McKie A.B., McHale J.C., Koca T.J., et al. Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). Hum Mol Genet. 10:2001;1555-1562
5. Palczewski K., McDowell J.H., Curtis D.R., et al. Crystal structure of rhodopsin A G protein-coupled receptor. Science. 289:2000;739-745