A multicenter study of typical retinitis pigmentosa in Japan.

Abstract:

:A nationwide, multicenter study of typical retinitis pigmentosa was carried out in collaboration with 13 university hospitals throughout Japan. A total of 253 patients, 122 males and 131 females, with a wide range of ages (mean 48 years), were registered during a two-month period in 1989. Determination of inheritance pattern revealed 30.2% autosomal recessive cases, 15.4% autosomal dominant, 0.5% X-linked, and 48.9% simplex, indicating a relative decrease in autosomal recessive cases and a relative increase in simplex cases in recent decades. The age at onset, initial symptom, and visual functions including visual acuity, visual field and electroretinogram showed a marked interindividual variability, but statistical analysis demonstrated that visual defects progressed with increasing age and disease duration. A correlation between the phenotypic variation and the genetic type was observed. This survey of retinitis pigmentosa in Japan provides information for counseling and rehabilitation of patients and encourages basic and clinical research of this genetic disease.

journal_name

Jpn J Ophthalmol

authors

Hayakawa M,Matsumura M,Ohba N,Matsui M,Fujiki K,Kanai A,Tamai M,Shiono T,Tokoro T,Akazawa Y

subject

Has Abstract,Author List Incomplete

pub_date

1993-01-01 00:00:00

pages

156-64

issue

2

eissn

0021-5155

issn

1613-2246

journal_volume

37

pub_type

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