Macular dystrophy in a 9-year-old boy with fundus albipunctatus

American Journal of Ophthalmology

Volumn 133, Issue 2, 2002, Pages 278-280

  Nakamura, Makoto ^a   Miyake, Yozo ^a  

^a NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

RETINOL DEHYDROGENASE;

ARTICLE; CASE REPORT; CLINICAL FEATURE; DARK ADAPTATION; ELECTRORETINOGRAM; EYE FUNDUS ALBIPUNCTATUS; GENE MUTATION; GENE SEQUENCE; HUMAN; MALE; PRIORITY JOURNAL; RETINA MACULA DEGENERATION; SCHOOL CHILD; VISUAL ACUITY;

ALCOHOL OXIDOREDUCTASES; CHILD; DARK ADAPTATION; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EYE DISEASES, HEREDITARY; FLUORESCEIN ANGIOGRAPHY; HUMANS; MACULAR DEGENERATION; MALE; NIGHT BLINDNESS; PHENOTYPE; VISUAL ACUITY;

EID: 0036143140     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(01)01304-6     Document Type: Article

References (5)

1. Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus
2. A high association with cone dystrophy in fundus albipunctatus caused by mutations of the RDH5 gene
3. Fundus albipunctatus associated with cone dystrophy
4. Oscillatory potentials in electroretinograms of the human macular region