[Peripherin/RDS gene mutation in a patient with choroidal neovascularization].
OBJECTIVE
To diagnose an atypical retinal degenerative disease with choroidal neovascularization by means of gene diagnosis.


METHODS
A 47-year-old woman had good visual acuity at the first examination. She had scattered chorioretinal degeneration and pigmentation in the peripheral retina. There was a symmetrical visual field defect in the upper and temporal periphery in both eyes. Seven years later, choroidal neovascular membrane (CNV) developed in the fovea of her left eye and visual acuity deteriorated to 0.4 in this eye. Optical coherence tomography revealed type 2 CNV with minimal subretinal fluid. Fluorescein angiography showed very little leakage from the CNV. We used denaturing high performance liquid chromatography(DHPLC) to perform gene diagnosis and found a peripherin/RDS gene mutation of Gly167-Ser.


CONCLUSIONS
Our case had moderate peripheral retinal degeneration with CNV. It is possible that cases like this tend to be misdiagnosed as AMD (age-related macular degeneration) or CNV with high myopia. Evaluation of the gene mutation was useful for diagnosis in this case.
Kawagoe
Naoaki
N
Department of Ophthalmology and Visual Sciences, Graduate School of Medicine, Kyoto University, Japan.
Takahashi
Masayo
M
Mandai
Michiko
M
Akimoto
Masayuki
M
Suzuki
Takuya
T
Murakami
Tomoaki
T
Hirami
Yasuhiko
Y
Ikeda
Hanako
H
Yoshimura
Nagahisa
N
D020256:Choroidal Neovascularization / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics*; D002851:Chromatography, High Pressure Liquid; D003937:Diagnosis, Differential; D003941:Diagnostic Techniques, Ophthalmological; D005260:Female; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008268:Macular Degeneration; D008562:Membrane Glycoproteins / Q000235:genetics*; D008875:Middle Aged; D025202:Molecular Diagnostic Techniques / Q000379:methods; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D064531:Peripherins; D012162:Retinal Degeneration / Q000150:complications / Q000175:diagnosis / Q000235:genetics
D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins