Electrophysiological findings in two young patients with Bothnia dystrophy and a mutation in the RLBP1 gene

Ophthalmic Genetics

Volumn 22, Issue 2, 2001, Pages 97-105

  Granse L ^a   Abrahamson, M ^a   Ponjavic, V ^a   Andreasson S ^a  

^a LUND UNIVERSITY   (Sweden)

Author keywords

Bothnia dystrophy; Full field electroretinography; Multifocal electroretinography; Night blindness; RLBP1 gene

Indexed keywords

ARTICLE; BOTHNIA DYSTROPHY; CASE REPORT; CHILD; CONTROLLED STUDY; DARK ADAPTATION; DISEASE COURSE; DNA SEQUENCE; ELECTROPHYSIOLOGY; ELECTRORETINOGRAM; EXON; EYE FUNDUS; EYE PHOTOGRAPHY; FEMALE; GENE MUTATION; HOMOZYGOSITY; HUMAN; MEDICAL EXAMINATION; PERIMETRY; PHENOTYPE; PRIORITY JOURNAL; RETINA CONE; RETINA MACULA LUTEA; RETINA ROD; RETINITIS; RETINITIS PIGMENTOSA; VISUAL ACUITY;

CARRIER PROTEINS; CHILD; DARK ADAPTATION; DIAGNOSIS, DIFFERENTIAL; ELECTRORETINOGRAPHY; FEMALE; FLUORESCEIN ANGIOGRAPHY; FUNDUS OCULI; HUMANS; IMAGE PROCESSING, COMPUTER-ASSISTED; MUTATION; PHENOTYPE; PHOTORECEPTORS, VERTEBRATE; POLYMERASE CHAIN REACTION; RETINAL DEGENERATION; SENSORY THRESHOLDS; SWEDEN; VISUAL ACUITY; VISUAL FIELDS;

EID: 0034831936     PISSN: 13816810     EISSN: None     Source Type: Journal    
DOI: 10.1076/opge.22.2.97.2231     Document Type: Article

References (12)

1. Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26
2. Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens
3. Phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene
4. The field topography of ERG components in man. I. The photopic luminance response
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6. A simple salting out procedure for extracting DNA from human nucleated cells
7. Retinitis pigmentosa - The Friedenwald Lecture
8. Über die eigenartige Hemeralopie mit diffuser weiss-graulicher Verfärbung des Augenhintergrundes
9. On a new discovery in the dark adaptation on Oguchi's disease
10. Defining fundus albipunctatus
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12. Immunocytochemical localization of two retinoid-binding proteins in vertebrate retina