Regional distribution of retinal degeneration in patients with the proline to histidine mutation in codon 23 of the rhodopsin gene.
Mutations in the rhodopsin gene are associated with as many as one quarter of all cases of autosomal dominant retinitis pigmentosa (RP). A number of different rhodopsin mutations have been reported but only the proline to histidine mutation in codon 23 (Pro-23-His) has been well characterized clinically. One recent report described a "sectoral" distribution of the retinal degeneration associated with this mutation, while another reported only that pigment was present in all four quadrants in 13 of 17 patients. This asymmetric distribution of pigmentation and visual field loss may prove to be an important clinical sign of a type of RP with a relatively good visual prognosis. The authors present a family with Pro-23-His rhodopsin-associated RP in which all six affected individuals had a regional distribution of the retinal degeneration in which the inferior hemisphere of the retina was most severely affected.
Stone
E M
EM
Department of Ophthalmology, University of Iowa College of Medicine, Iowa City.
Kimura
A E
AE
Nichols
B E
BE
Khadivi
P
P
Fishman
G A
GA
Sheffield
V C
VC
D000293:Adolescent; D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D001483:Base Sequence; D003062:Codon; D004247:DNA / Q000032:analysis; D005260:Female; D006639:Histidine / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011392:Proline / Q000235:genetics*; D012162:Retinal Degeneration / Q000235:genetics / Q000473:pathology; D012174:Retinitis Pigmentosa / Q000235:genetics; D012243:Rhodopsin / Q000235:genetics*; D014794:Visual Fields
D003062:Codon; D006639:Histidine; D004247:DNA; D012243:Rhodopsin; D011392:Proline