A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots.
OBJECTIVE
To report a novel homozygous RDH5 gene mutation in a 76-year-old fundus albipunctatus who developed macular atrophy with the disappearance of white dots.


METHODS
Observational case report.


METHODS
Direct genomic sequencing for RDH5 mutations was done after complete ophthalmic examination.


RESULTS
Fundoscopy revealed only macular atrophy with notable absence of white dots. A homozygous G490T (Val164Phe) missense RDH5 gene mutation was detected.


CONCLUSIONS
This is the first reported long-term case of fundus albipunctatus demonstrating macular atrophy with fading of the typical white dots. Gene studies may be the only method for distinguishing fundus albipunctatus from other types of macular atrophy in the elderly.
Yamamoto
Hiroyuki
H
Departments of Organ Therapeutics, Division of Ophthalmology, Kobe University Graduate School of Medicine, Japan. hyamamot@med.kobe-u.ac.jp
Yakushijin
Kimikazu
K
Kusuhara
Sentaro
S
Escaño
Michael Francis T
MF
Nagai
Azusa
A
Negi
Akira
A
D000368:Aged; D000429:Alcohol Oxidoreductases / Q000235:genetics*; D001284:Atrophy; D004252:DNA Mutational Analysis; D004596:Electroretinography; D006801:Humans; D008266:Macula Lutea / Q000473:pathology*; D008297:Male; D020125:Mutation, Missense; D009755:Night Blindness / Q000201:enzymology / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012164:Retinal Diseases / Q000201:enzymology / Q000235:genetics*
D000429:Alcohol Oxidoreductases; C022520:retinol dehydrogenase