Structural and functional characteristics in carriers of x-linked retinitis pigmentosa with a tapetal-like reflex

Retina

Volumn 30, Issue 10, 2010, Pages 1726-1733

  Genead, Mohamed A ^a   Fishman, Gerald A ^a   Lindeman, Martin ^a  

^a UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CORNEA REFLEX; CORNEA THICKNESS; DISEASE CARRIER; EYE EXAMINATION; EYE FUNDUS; FEMALE; HIGH MYOPIA; HUMAN; IMMUNOFLUORESCENCE TEST; MICROMORPHOLOGY; NEAR INFRARED REFLECTANCE SPECTROSCOPY; OPTICAL COHERENCE TOMOGRAPHY; RETINITIS PIGMENTOSA; SCLEROSIS; UNITED STATES;

CHROMOSOMES, HUMAN, X; FEMALE; FLUORESCEIN ANGIOGRAPHY; GENETIC DISEASES, X-LINKED; HETEROZYGOTE; HUMANS; MIDDLE AGED; PEDIGREE; REFLEX; RETINA; RETINITIS PIGMENTOSA; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; VISUAL FIELD TESTS; VISUAL FIELDS; YOUNG ADULT;

EID: 78650177812     PISSN: 0275004X     EISSN: None     Source Type: Journal    
DOI: 10.1097/IAE.0b013e3181dde629     Document Type: Article

References (24)

1. Marmor MF, Aguirre G, Arden GB, et al. Retinitis pigmentosa: a symposium on terminology and methods of examination. Ophthalmology 1983;90:126-131.
2. Fishman GA. Retinitis pigmentosa. Genetic percentages. Arch Ophthalmol 1978;96:822-826.
3. Bird AC. X-linked retinitis pigmentosa. Br J Ophthalmol 1975; 59:177-199.
4. Fishman GA, Weinberg AB, McMahon TT. X-linked recessive retinitis pigmentosa: clinical characteristics of carriers. Arch Ophthalmol 1986;104:1329-1335.
5. Brouzas D. Psychophysical tests in X-linked retinitis pigmentosa carrier status. Surv Ophthalmol 1995;39: 76-84.
6. Falls HF, Cotterman CW. Choroidal degeneration: a sex-linked form in which heterozygous women exhibit a tapetal-like reflex. Arch Ophthalmol 1948;40:685-703.
7. Grover S, Fishman GA, Anderson RJ, Lindeman M. A longitudinal study of visual function in carriers of X-linked recessive retinitis pigmentosa. Ophthalmology 2000;107: 386-396.
8. Krill AE. Observations of carriers of X-chromosomal-linked chorioretinal degenerations. Do these support the "inactivation hypothesis"? Am J Ophthalmol 1967;64: 1029-1040.
9. Berendschot TT, DeLint PJ, van Norren D. Origin of tapetal-like reflexes in carriers of X-linked retinitis pigmentosa. Invest Ophthalmol Vis Sci 1996;37:2716-2723.
10. Cideciyan AV, Jacobson SG. Image analysis of the tapetal-like reflex in carriers of X-linked retinitis pigmentosa. Invest Ophthalmol Vis Sci 1994;35:3812-3824.
11. Teague PW, Aldred MA, Jay M, et al. Heterogeneity analysis in 40 X-linked retinitis pigmentosa families. Am J Hum Genet 1994;55:105-111.
12. Meindl A, Dry K, Herrmann K, et al. A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Nat Genet 1996;13:35-42.
13. Mears AJ, Gieser L, Yan D, et al. Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet 1999;64: 897-900.
14. Hong DH, Pawlyk BS, Shang J, Sandberg MA, Berson EL, Li T. A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3). Proc Natl Acad Sci USA 2000;97: 3649-3654.
15. Rohlich P. The sensory cilium of retinal rods is analogous to the transitional zone of motile cilia. Cell Tissue Res 1975;161: 421-430.
16. Hardcastle AJ, Thiselton DL, Van Maldergem L, et al. Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study. Am J Hum Genet 1999;64:1210-1215.
17. Bird AC, Marshall J. Retinal receptor disorders without known metabolic abnormalities. In: Garder A, Klintworth GK, eds. Pathobiology of Ocular Disease. New York, NY: Marcel Dekkar; 1982:1167-1220.
18. Noble KG, Margolis S, Carr RE. The golden tapetal sheen reflex in retinal disease. Am J Ophthalmol 1989;107: 211-217.
19. Wegscheider E, Preising MN, Lorenz B. Fundus autofluor-escence in carriers of X-linked recessive retinitis pigmentosa associated with mutations in RPGR, and correlation with electrophysiological and psychophysical data. Graefes Arch Clin Exp Ophthalmol 2004;242:501-511.
20. Reese BE, Harvey AR, Tan SS. Radial and tangential dispersion patterns in the mouse retina are cell-class specific. Proc Natl Acad Sci USA 1995;92:2494-2498.
21. Reese BE, Necessary BD, Tam PP, Faulkner-Jones B, Tan SS. Clonal expansion and cell dispersion in the developing mouse retina. Eur J Neurosci 1999;11:2965-2978.
22. Imanishi Y, Batten ML, Piston DW, Baehr W, Palczewski K. Noninvasive two-photon imaging reveals retinyl ester storage structures in the eye. J Cell Biol 2004;164:373-383.
23. Mohand-Said S, Hicks D, Leveillard T, Picaud S, Porto F, Sahel JA. Rod-cone interactions: developmental and clinical significance. Prog Retin Eye Res 2001;20:451-467.
24. Vingolo EM, Livani ML, Domanico D, Mendonxca RH, Rispoli E. Optical coherence tomography and electro-oculogram abnormalities in X-linked retinitis pigmentosa. Doc Ophthalmol 2006;113:5-10.