Abstract
The objective of the paper is to study the retinal microstructure and function in a patient with autosomal recessive bestrophinopathy (ARB). Retinal function and morphology assessment in a patient diagnosed with a biallelic mutation in the BEST1 gene (heterozygote mutations: Leu88del17 and A195V) included: full-field electroretinogram (ffERG) and multifocal electroretinogram (mfERG), electro-oculogram (EOG) testing, and imaging with a high-resolution Fourier-domain optical coherence tomography (Fd-OCT) system (UC Davis Medical Center; axial resolution: 4.5 μm, acquisition speed: 9 frames/s, 1,000 A-scans/frame) combined with a flexible scanning head (Bioptigen Inc.). The 11-year old asymptomatic boy showed a well-demarcated retinopathy with deposits. Functional assessment revealed normal visual acuity, reduced central mfERG responses, delayed rod and rod-cone b-wave ffERG responses, and reduced light rise in the EOG. Fd-OCT demonstrated RPE deposits, photoreceptor detachment, elongated and thickened photoreceptor outer segments, but preserved inner retinal layers. In conclusion, ARB associated retinal dystrophy shows functional and morphological changes that overlap with classic Best disease. For the first time, high-resolution imaging provided in vivo evidence of RPE and photoreceptor involvement in ARB.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 239-246 |
| Number of pages | 8 |
| Journal | Documenta Ophthalmologica |
| Volume | 118 |
| Issue number | 3 |
| DOIs | |
| State | Published - 2009 |
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Keywords
- ARB
- Autosomal recessive bestrophinopathy
- Electro-oculogram
- Fourier-domain OCT
- Multifocal ERG
ASJC Scopus subject areas
- Ophthalmology
- Sensory Systems
- Physiology (medical)
Cite this
Detailed analysis of retinal function and morphology in a patient with autosomal recessive bestrophinopathy (ARB). / Gerth, Christina; Zawadzki, Robert; Werner, John S; Héon, Elise.
In: Documenta Ophthalmologica, Vol. 118, No. 3, 2009, p. 239-246.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Detailed analysis of retinal function and morphology in a patient with autosomal recessive bestrophinopathy (ARB)
AU - Gerth, Christina
AU - Zawadzki, Robert
AU - Werner, John S
AU - Héon, Elise
PY - 2009
Y1 - 2009
N2 - The objective of the paper is to study the retinal microstructure and function in a patient with autosomal recessive bestrophinopathy (ARB). Retinal function and morphology assessment in a patient diagnosed with a biallelic mutation in the BEST1 gene (heterozygote mutations: Leu88del17 and A195V) included: full-field electroretinogram (ffERG) and multifocal electroretinogram (mfERG), electro-oculogram (EOG) testing, and imaging with a high-resolution Fourier-domain optical coherence tomography (Fd-OCT) system (UC Davis Medical Center; axial resolution: 4.5 μm, acquisition speed: 9 frames/s, 1,000 A-scans/frame) combined with a flexible scanning head (Bioptigen Inc.). The 11-year old asymptomatic boy showed a well-demarcated retinopathy with deposits. Functional assessment revealed normal visual acuity, reduced central mfERG responses, delayed rod and rod-cone b-wave ffERG responses, and reduced light rise in the EOG. Fd-OCT demonstrated RPE deposits, photoreceptor detachment, elongated and thickened photoreceptor outer segments, but preserved inner retinal layers. In conclusion, ARB associated retinal dystrophy shows functional and morphological changes that overlap with classic Best disease. For the first time, high-resolution imaging provided in vivo evidence of RPE and photoreceptor involvement in ARB.
AB - The objective of the paper is to study the retinal microstructure and function in a patient with autosomal recessive bestrophinopathy (ARB). Retinal function and morphology assessment in a patient diagnosed with a biallelic mutation in the BEST1 gene (heterozygote mutations: Leu88del17 and A195V) included: full-field electroretinogram (ffERG) and multifocal electroretinogram (mfERG), electro-oculogram (EOG) testing, and imaging with a high-resolution Fourier-domain optical coherence tomography (Fd-OCT) system (UC Davis Medical Center; axial resolution: 4.5 μm, acquisition speed: 9 frames/s, 1,000 A-scans/frame) combined with a flexible scanning head (Bioptigen Inc.). The 11-year old asymptomatic boy showed a well-demarcated retinopathy with deposits. Functional assessment revealed normal visual acuity, reduced central mfERG responses, delayed rod and rod-cone b-wave ffERG responses, and reduced light rise in the EOG. Fd-OCT demonstrated RPE deposits, photoreceptor detachment, elongated and thickened photoreceptor outer segments, but preserved inner retinal layers. In conclusion, ARB associated retinal dystrophy shows functional and morphological changes that overlap with classic Best disease. For the first time, high-resolution imaging provided in vivo evidence of RPE and photoreceptor involvement in ARB.
KW - ARB
KW - Autosomal recessive bestrophinopathy
KW - Electro-oculogram
KW - Fourier-domain OCT
KW - Multifocal ERG
UR - http://www.scopus.com/inward/record.url?scp=67349108326&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=67349108326&partnerID=8YFLogxK
U2 - 10.1007/s10633-008-9154-5
DO - 10.1007/s10633-008-9154-5
M3 - Article
C2 - 18985398
AN - SCOPUS:67349108326
VL - 118
SP - 239
EP - 246
JO - Documenta Ophthalmologica
JF - Documenta Ophthalmologica
SN - 0012-4486
IS - 3
ER -