Different mutation of the XLRS1 gene causes juvenile retinoschisis with retinal white flecks [1]

British Journal of Ophthalmology

Volumn 85, Issue 2, 2001, Pages 238-239

  Hotta, Y ^a   Nakamura, M ^a   Okamoto, Y ^a   Nomura, R ^a   Terasaki, H ^a   Miyake, Y ^a  

^a HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; CASE REPORT; CLINICAL FEATURE; ELECTRORETINOGRAPHY; GENE MUTATION; GENETIC LINKAGE; HUMAN; LETTER; MALE; OPHTHALMOSCOPY; PATHOGENESIS; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RETINOSCHISIS; SCHOOL CHILD; X CHROMOSOMAL INHERITANCE;

ADOLESCENT; ADULT; CHILD; EYE PROTEINS; GENOTYPE; HUMANS; MALE; MUTATION; PEDIGREE; RETINAL DISEASES;

EID: 0035135735     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.85.2.238     Document Type: Letter

References (8)

1. Uber das zusammenvorkommen von verasnderungen der retina und choroidea
2. Fundus albipunctatus-like lesions in juvenile retinoschisis
3. Positional cloning of the gene associated with X-linked juvenile retinoschisis
4. Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus
5. Retinitis punctata albescens, a functional evaluation of an unusual case
6. Flecked retina syndrome
7. Functional implications of the spectrum of mutations found in 243 cases with X-linked juvenile retinoschisis (XLRS)
8. Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene