Abnormal rod dark adaptation in autosomal dominant retinitis pigmentosa with proline-23-histidine rhodopsin mutation.
We studied rod and cone function in 13 patients from four families with autosomal dominant retinitis pigmentosa and the proline-23-histidine rhodopsin mutation. In patients with early stages of this disease, rod sensitivity was mildly abnormal throughout the retina and cone sensitivity was normal. In more severely affected patients, sensitivity loss varied with retinal region, some regions showing mild rod loss only and other regions having pronounced rod and cone dysfunction. Rhodopsin levels were decreased below normal by amounts that indicated the rod sensitivity loss was determined by the reduced ability to absorb light. The most characteristic abnormality of this genotype was a slowed rod branch of dark adaptation, which was present regardless of the extent or severity of disease. The time required for recovery of rod sensitivity was more than twice the normal time. These findings with dark-adapted perimetry, fundus reflectometry, and dark adaptometry showed intrafamilial and interfamilial consistency.
Kemp
C M
CM
Department of Ophthalmology, University of Miami School of Medicine, Bascom Palmer Eye Institute, Florida 33130.
Jacobson
S G
SG
Roman
A J
AJ
Sung
C H
CH
Nathans
J
J
D000293:Adolescent; D000328:Adult; D000368:Aged; D003062:Codon; D003623:Dark Adaptation; D004596:Electroretinography; D005260:Female; D006639:Histidine / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010786:Photoreceptor Cells / Q000503:physiopathology*; D011392:Proline / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000503:physiopathology; D012243:Rhodopsin / Q000235:genetics*; D014794:Visual Fields
D003062:Codon; D006639:Histidine; D012243:Rhodopsin; D011392:Proline