Central areolar choroidal dystrophy associated with dominantly inherited drusen

British Journal of Ophthalmology

Volumn 86, Issue 1, 2002, Pages 91-96

  Klevering, B Jeroen ^a   Van Driel, Marc ^a   Van Hogerwou, August J M ^a   Van de Pol, Dorien J R ^a   Deutman, August F ^a   Pinckers, Alfred J L G ^a   Cremers, Frans P M ^a   Hoyng, Carel B ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; PERIPHERIN; TRYPTOPHAN;

ADULT; AGE; ANGIOGRAPHY; ARTICLE; CHOROID DISEASE; CLINICAL ARTICLE; CLINICAL EXAMINATION; DISEASE ASSOCIATION; DNA SCREENING; DOMINANT INHERITANCE; DRUSEN; FEMALE; GENE MUTATION; GENETIC PREDISPOSITION; HUMAN; MALE; PHENOTYPE; PRIORITY JOURNAL;

ADULT; AGED; CHOROID DISEASES; FEMALE; FLUORESCEIN ANGIOGRAPHY; GENES, DOMINANT; HUMANS; INTERMEDIATE FILAMENT PROTEINS; MALE; MEMBRANE GLYCOPROTEINS; MIDDLE AGED; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; RETINAL DRUSEN; VISUAL ACUITY;

EID: 0036145120     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.86.1.91     Document Type: Article

References (31)

1. The development of centrol areolor choroidol dystrophy
2. Autosomal dominant central areolar choroidal dystrophy caused by a mutation in codon 142 in the peripherin/RDS gene
3. Localisation of a gene for central areolar choroidal dystrophy to chromosome 17p
4. Fine localisation of the gene for central areolar choroidal dystrophy on chromosome 17p
5. Dominantly inherited drusen represent more than one disorder: A historical review
6. Dominantly inherited drusen of Bruch's membrane
7. A single EFEMP1 mutation associated with both malattia leventinese and Doyne honeycomb retinal dystrophy
8. Is genetic predisposition an important risk factor in age-related macular degeneration?
9. A twin study on age-related macular degeneration
10. Monozygotic twins with age-related macular degeneration
11. Sibling correlations and segregation analysis of age-related maculopathy: The Beaver Dam Eye Study
12. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration
13. Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration
14. Analysis of the Stargardt disease gene (ABCR) in age-related macular degeneration
15. Molecular genetic analysis of ABCR gene in Japanese dry form age-related macular degeneration
16. ATP binding cassette transporter retina genotypes and age related macular degeneration: An analysis on exudative non-familial Japanese patients
17. A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration
18. ABCR gene analysis in familial exudative age-related macular degeneration
19. Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium
20. Age-related macular degeneration
21. Prevalence of age-related maculopathy. The Beaver Dam Eye Study
22. The prevalence of age-related maculopathy in the Rotterdam Study
23. A multipurpose system for ophthalmic electrodiagnosis
24. Central chorioretinal dystrophy with drusen and retinal crystals
25. Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene
26. RDS/peripherin gene mutations are frequent causes of central retinal dystrophies
27. Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene
28. Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration
29. The role of the peripherin/RDS gene in retinal dystrophies
30. Evaluation of the peripherin/RDS gene as a candidate gene in families with age-related macular degeneration