Multimodal fundus imaging in fundus albipunctatus with RDH5 mutation: a newly identified compound heterozygous mutation and review of the literature.
The aim of this study was to describe multimodal retinal imaging of fundus albipunctatus (FA) with the newly identified compound heterozygous RDH5 mutation and to review the relevant literature. Five family members were examined, and the RDH5 gene was analyzed by direct sequencing. The clinical features and genetic study of FA are reviewed. The proband had a compound heterozygotic missense mutation of Cys59Ser (TGC → AGC) and a nonsense mutation of Trp95ter (TGG → TGA) in the RDH5 gene. Fundus examination revealed diffuse yellow flecks with foveal sparing. Infrared reflectance (IR) imaging showed multiple discrete round lesions, and fundus autofluorescence (FAF) imaging showed decreased autofluorescence. In spectral domain optical coherence tomography (SD-OCT), the lesions spanned across the retinal pigment epithelium complex and the photoreceptor inner segment ellipsoid band. The outer nuclear layer thickness is decreased compared to normal control. Electroretinography (ERG) showed improved dark-adapted responses after a prolonged 2.5-h dark adaptation. The fundi of the patient's son and daughter both appeared unremarkable. The clinical findings, differential diagnosis, and genetic studies of these features are reviewed. This is the first time that IR imaging of this disease has been reported; IR imaging showed more detail than did FAF imaging. Although retinal imaging (fundus photographs, FAF, IR, SD-OCT) of FA showed characteristic findings, ERG and genetic study remain the most reliable tests for making the diagnosis.
Department of Ophthalmology, Chang Gung Memorial Hospital, Linkuo Medical Center, No. 5, Fu-Hsing Street, Kuei Shan, Taoyuan 333, Taiwan. wang.nankai@gmail.com
Nan-Kai
NK
Wang
Lan-Hsin
LH
Chuang
Chi-Chun
CC
Lai
Chai Lin
CL
Chou
Hsueh-Yen
HY
Chu
Ling
L
Yeung
Yen-Po
YP
Chen
Kuan-Jen
KJ
Chen
Wei-Chi
WC
Wu
Tun-Lu
TL
Chen
An-Ning
AN
Chao
Yih-Shiou
YS
Hwang
D000293:Adolescent; D000328:Adult; D000368:Aged; D000429:Alcohol Oxidoreductases / Q000235:genetics*; D000595:Amino Acid Sequence; D002352:Carrier Proteins / Q000235:genetics; D002648:Child; D004252:DNA Mutational Analysis; D003623:Dark Adaptation / Q000502:physiology; D004596:Electroretinography; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D009755:Night Blindness / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D009887:Ophthalmoscopy; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012160:Retina / Q000503:physiopathology; D012162:Retinal Degeneration / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D041623:Tomography, Optical Coherence; D014785:Vision, Ocular
C020932:11-cis-retinal-binding protein; D002352:Carrier Proteins; D000429:Alcohol Oxidoreductases; C105846:retinol dehydrogenase 5