Albipunctate retinopathy with cone dysfunction and no abnormality in the RDH5 or RLBP1 genes.
Marmor
Michael F
MF
Department of Ophthalmology, A-157, Stanford University School of Medicine, Stanford, CA 94305-5308, USA. marmor@stanford.edu
Haeseleer
Francoise
F
Palczewski
Krzysztof
K
D000328:Adult; D000429:Alcohol Oxidoreductases / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D003623:Dark Adaptation; D004596:Electroretinography; D005451:Fluorescein Angiography; D006801:Humans; D008297:Male; D009755:Night Blindness / Q000175:diagnosis / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017949:Retinal Cone Photoreceptor Cells / Q000473:pathology*; D012164:Retinal Diseases / Q000175:diagnosis / Q000235:genetics*
C020932:11-cis-retinal-binding protein; D002352:Carrier Proteins; D000429:Alcohol Oxidoreductases; C022520:retinol dehydrogenase