[Clinical and genetic findings in a patient with fundus albipunctatus].
METHODS
The 38-year-old index patient was examined by visual acuity testing, perimetry, dark adaptometry, funduscopy, electroretinogram (ERG), and multifocal ERG. She was screened for mutations in exons 2-5 and exon/intron boundaries of the 11- cis retinol dehydrogenase gene by direct sequencing.


RESULTS
Visual acuity was 1.0, but perimetry revealed paracentral scotomas associated with reading problems. The optic discs were normal. After 45 min of darkness there was nearly no increase of light sensitivity. After 30 min of dark adaptation, the scotopic ERG showed reduced amplitudes, but after 60 min a nearly normal level was reached. The 30-Hz flicker response of the cone ERG showed borderline implicit times, but no reduction of amplitudes. However, multifocal ERG clearly disclosed a paracentral amplitude reduction as the reason for the visual field defects. The fundus was typical for fundus albipunctatus. The patient is a compound heterozygote carrying a Ile33Asn and a Arg157Trp mutation.


CONCLUSIONS
The paracentral visual field defects were due to cone dysfunction. So far the patient exhibits no cone dystrophy.
Rüther
K
K
Charité, Universitätsmedizin Berlin, Augenklinik Campus Virchow Klinikum. klaus.ruether@charite.de
Janssen
B P M
BP
Kellner
U
U
Janssen
J J M
JJ
Bohne
M
M
Reimann
J
J
Driessen
C A G G
CA
D000328:Adult; D000367:Age Factors; D000429:Alcohol Oxidoreductases / Q000235:genetics*; D003623:Dark Adaptation / Q000502:physiology; D004596:Electroretinography; D005091:Exons / Q000235:genetics; D005260:Female; D005654:Fundus Oculi; D006579:Heterozygote; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D009154:Mutation; D009755:Night Blindness / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D020795:Photophobia; D011110:Polymorphism, Genetic; D017949:Retinal Cone Photoreceptor Cells / Q000503:physiopathology*; D013997:Time Factors; D014786:Vision Disorders / Q000209:etiology; D014785:Vision, Ocular / Q000502:physiology; D014792:Visual Acuity; D058609:Visual Field Tests; D014794:Visual Fields
D000429:Alcohol Oxidoreductases; C022520:retinol dehydrogenase