Retinitis pigmentosa. Genetic percentages

G. A. Fishman

A total of 173 patients, from 124 families, with retinitis pigmentosa were evaluated for the presence of various forms of genetic transmission. Of the 124 pedigrees, it was evident that some form of genetic transmission had occurred in 59 (48%). In 65 families (52%), the proband was the only known affected family member (isolated case). In those families with know genetic transmission, 17% (10 patients) were X-linked recessive, 39% (23 patients) were either probable or certain autosomal dominant, 41% (24 patients) were certain or probable autosomal recessive, and 3% (2 patients) were of a genetic type that could not be determined with certainty. These findings are, to my knowledge, the first published series from the United States to indicate that the X-linked recessive form of retinitis pigmentosa is a more prevalent genetic trait than has been emphasized previously.

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

The prevalence of cystoid macular oedema in retinitis pigmentosa patients determined by optical coherence tomography
Hajali et al.
Br. J. Ophthalmol. 2008;92:1065-1068.
ABSTRACT | FULL TEXT  

Retardation of Photoreceptor Degeneration in the Detached Retina of rd1 Mouse
Kaneko et al.
IOVS 2008;49:781-787.
ABSTRACT | FULL TEXT  

A Population-Based Epidemiological and Genetic Study of X-Linked Retinitis Pigmentosa
Prokisch et al.
IOVS 2007;48:4012-4018.
ABSTRACT | FULL TEXT  

Developmental and Tissue Expression of Xenopus laevis RPGR
Shu et al.
IOVS 2006;47:348-356.
ABSTRACT | FULL TEXT  

RPGR-ORF15, Which Is Mutated in Retinitis Pigmentosa, Associates with SMC1, SMC3, and Microtubule Transport Proteins
Khanna et al.
J. Biol. Chem. 2005;280:33580-33587.
ABSTRACT | FULL TEXT  

Identification of a novel protein interacting with RPGR
Boylan and Wright
Hum Mol Genet 2000;9:2085-2093.
ABSTRACT | FULL TEXT  

The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors
Roepman et al.
Hum Mol Genet 2000;9:2095-2105.
ABSTRACT | FULL TEXT  

Large Phase Differences between L-Cone- and M-Cone-Driven Electroretinograms in Retinitis Pigmentosa
Scholl and Kremers
IOVS 2000;41:3225-3233.
ABSTRACT | FULL TEXT  

X-Linked Retinitis Pigmentosa: Mutation Spectrum of the RPGR and RP2 Genes and Correlation with Visual Function
Sharon et al.
IOVS 2000;41:2712-2721.
ABSTRACT | FULL TEXT  

Retinal Pathology of Canine X-linked Progressive Retinal Atrophy, the Locus Homologue of RP3
Zeiss et al.
IOVS 1999;40:3292-3304.
ABSTRACT | FULL TEXT  

Difficulty in performing everyday activities in patients with juvenile macular dystrophies: comparison with patients with retinitis pigmentosa
Szlyk et al.
Br. J. Ophthalmol. 1998;82:1372-1376.
ABSTRACT | FULL TEXT  

A New 2-Base Pair Deletion in the RPGR Gene in a Black Family With X-Linked Retinitis Pigmentosa
Fishman et al.
Arch Ophthalmol 1998;116:213-218.
ABSTRACT | FULL TEXT