Bietti crystalline retinopathy and juvenile retinoschisis in a family with a novel RS1 mutation

Archives of Ophthalmology

Volumn 119, Issue 11, 2001, Pages 1719-1721

  Weinberg, D V ^a   Sieving, P A ^a   Bingham, E L ^a   Jampol, L M ^a   Mets, M B ^a  

^a NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; EYE FUNDUS; FAMILIAL DISEASE; GENE MUTATION; GENE SEQUENCE; HUMAN; MALE; MARKER GENE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINOPATHY; RETINOSCHISIS; VISUAL ACUITY;

EYE PROTEINS; FAMILY; FEMALE; FLUORESCEIN ANGIOGRAPHY; FUNDUS OCULI; HUMANS; INFANT; LINKAGE (GENETICS); MALE; MIDDLE AGED; PHENOTYPE; POINT MUTATION; RETINAL DEGENERATION; VISUAL ACUITY; X CHROMOSOME;

EID: 0034756408     PISSN: 00039950     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (6)

1. Positional cloning of the gene associated with X-linked juvenile retinoschisis
2. Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis
3. Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change
4. Heredodystrophic disorders affecting the pigment epithelium and retina
5. Bietti crystalline retinopathy affecting all 3 male siblings in a family
6. Autosomal dominant crystalline dystrophy