Clinical and serum lipid findings in a large family with autosomal dominant retinitis pigmentosa.
Retinitis pigmentosa, of unknown cause, has recently been associated with decreased amounts of the polyunsaturated fatty acid, docosahexaenoic acid, in the plasma of affected as compared with unaffected relatives. It has been suggested that this finding may serve as a marker for the disease and might indicate alterations in photoreceptor cell metabolism. The authors studied 54 members of a family with dominantly inherited retinitis pigmentosa in five generations. In addition to the typical clinical findings of retinitis pigmentosa, eight persons also had a bull's eye maculopathy, and four persons had uni- or bilateral optic nerve drusen. When the authors determined the plasma fatty acid and lipid contents, they saw the expected age-related effect on cholesterol and triglycerides, but an unexpected, significant reduction in fatty acids in the unaffected controls as compared with persons with retinitis pigmentosa. The authors' results emphasize the heterogeneity of phenotypic expression of retinitis pigmentosa within a single family.
Newsome
D A
DA
Lions Eye Research Laboratories, LSU Eye Center, New Orleans 70112.
Anderson
R E
RE
May
J G
JG
McKay
T A
TA
Maude
M
M
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002648:Child; D002784:Cholesterol / Q000097:blood; D002869:Chromosome Aberrations / Q000097:blood*; D025063:Chromosome Disorders; D005227:Fatty Acids / Q000097:blood; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008055:Lipids / Q000097:blood*; D008297:Male; D008875:Middle Aged; D009755:Night Blindness / Q000473:pathology; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000097:blood* / Q000235:genetics / Q000473:pathology; D014280:Triglycerides / Q000097:blood
D005227:Fatty Acids; D008055:Lipids; D014280:Triglycerides; D002784:Cholesterol