Retinal dystrophies caused by mutations in RPE65: Assessment of visual functions

British Journal of Ophthalmology

Volumn 85, Issue 4, 2001, Pages 424-427

  Hamel, C P ^a,b   Griffoin, J M ^a   Lasquellec, L ^a   Bazalgette, C ^a   Arnaud, B ^a  

^a GUI DE CHAULIAC HOSPITAL   (France)

^b INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN RPE65; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; DRUSEN; EYE FUNDUS; FEMALE; GENE MUTATION; HETEROZYGOTE; HUMAN; LEBER CONGENITAL AMAUROSIS; MALE; NYSTAGMUS; PIGMENTATION; PRIORITY JOURNAL; RETINA CONE; RETINA DYSTROPHY; RETINA MACULA DEGENERATION; RETINA ROD; VISION;

ADOLESCENT; ADULT; COLOR PERCEPTION TESTS; ELECTRORETINOGRAPHY; FEMALE; FLUORESCEIN ANGIOGRAPHY; HETEROZYGOTE; HUMANS; MALE; MUTATION; OPTIC ATROPHIES, HEREDITARY; PEDIGREE; PERIMETRY; PIGMENT EPITHELIUM OF EYE; RETINITIS PIGMENTOSA;

EID: 0035059832     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.85.4.424     Document Type: Article

References (21)

1. Mutations in RPE65 cause Leber's congenital amaurosis
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3. Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis
4. Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene
5. Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis
6. Mutation analysis of 3 genes in patients with Leber congenital amaurosis
7. Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle
8. Clinical findings in patients with retinal dystrophies caused by mutations in RPE65
9. Novel mutations in the gene encoding RPE65 in patients with Leber congenital amaurosls (LCA II)
10. A homozygous Y44D change in the RPE65 gene in a patient with Leber congenital amaurosis and keratoconus
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13. Mutation spectrum of RPE65 in autosomal recessive childhood-onset severe retinal dystrophy
14. RPE65 mutations in childhood-onset, severe retinal degenerations
15. Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa
16. Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens
17. Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26
18. Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus
19. White spots in the fundus combined with night blindness and xerosis (Uyemura's syndrome)
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21. Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration