Carriers of X-linked retinitis pigmentosa. A fluorophotometric determination of the permeability of the blood-retinal barrier.
The blood-retinal barrier permeability to fluorescein was studied in a single family with X-linked retinitis pigmentosa by an elaborate vitreous fluorophotometric method. Affected males showed a ten times increase of permeability compared with normals. In a group of seven obligate carriers the mean permeability was significantly increased by 45% compared with the mean permeability in a group of normals. Five of the seven carriers had permeabilities higher than the normal mean permeability + 2 SD, while two carriers had a permeability within the normal mean +/- 2 SD. Thus, this study supported that carriers of X-linked retinitis pigmentosa show deterioration of the blood-retinal barrier. However, the phenomenon is not present in all carriers and the permeability cannot be used as a completely safe indicator of the carrier state.
Larsen
M
M
Krogsaa
B
B
Warburg
M
M
Sørensen
S A
SA
Lund-Andersen
H
H
D000293:Adolescent; D000328:Adult; D002353:Carrier State / Q000175:diagnosis*; D005260:Female; D019793:Fluorescein; D005452:Fluoresceins / Q000378:metabolism; D005470:Fluorometry; D006580:Genetic Carrier Screening / Q000379:methods*; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012160:Retina / Q000098:blood supply / Q000378:metabolism; D012174:Retinitis Pigmentosa / Q000235:genetics*; D014960:X Chromosome
D005452:Fluoresceins; D019793:Fluorescein