Implications of genetic analysis in Leber congenital amaurosis

Archives of Ophthalmology

Volumn 119, Issue 3, 2001, Pages 426-427

  Gamm, D M ^a   Thliveris, A T ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

EDITORIAL; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; HUMAN; LEBER CONGENITAL AMAUROSIS; PATHOPHYSIOLOGY; PRIORITY JOURNAL;

EID: 0035095838     PISSN: 00039950     EISSN: None     Source Type: Journal    
DOI: 10.1001/archopht.119.3.426     Document Type: Editorial

References (16)

1. Mutations in the CRB1 gene cause Leber congenital amaurosis
2. Physiology of the eye
3. Classification of congenital and early-onset retinitis pigmentosa
4. Clinical and genetic heterogeneity in retinitis pigmentosa
5. A gene for Leber's congenital amaurosis maps to chromosome 7p
6. Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis
7. Mutations in RPE65 cause Leber's congenital amaurosis
8. De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis
9. Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration
10. Mutations in a new photoreceptorpineal gene on 17p cause Leber congenital amaurosis
11. Mutation analysis of 3 genes in patients with Leber congenital amaurosis
12. Follow-up and diagnostic reappraisal of 75 patients with Leber's congenital amaurosis
13. Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis
14. Vision in Leber congenital amaurosis
15. Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis
16. Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness