Double Concentric Autofluorescence Ring in NR2E3-p.G56R-linked Autosomal Dominant Retinitis Pigmentosa.

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Version: Final published version
Serval ID
serval:BIB_5A2A809A1E52
Type
Article: article from journal or magazin.
Collection
Publications
Title
Double Concentric Autofluorescence Ring in NR2E3-p.G56R-linked Autosomal Dominant Retinitis Pigmentosa.
Journal
Investigative Ophthalmology and Visual Science
Author(s)
Escher P., Tran H.V., Vaclavik V., Borruat F.X., Schorderet D.F., Munier F.L.
ISSN
1552-5783 (Electronic)
ISSN-L
0146-0404
Publication state
Published
Issued date
2012
Peer-reviewed
Oui
Volume
53
Number
8
Pages
4754-4764
Language
english
Notes
Publication types: JOURNAL ARTICLE
Abstract
Purpose: We report an unusual appearance of fundus autofluorescence (FAF) associated with NR2E3-p.G56R-linked autosomal dominant retinitis pigmentosa (ADRP).Methods: Patients were enrolled among three generations in a Swiss family. Molecular diagnosis identified a c.166G>A (p.G56R) mutation. Ophthalmic examination included fundus photography, FAF, near-infrared autofluorescence (NIA), optical coherence tomography (OCT) and visual fields (VF).Results: Fundus examination revealed a wide range of features from unremarkable to attenuated arterial caliber, clumped and spicular pigment deposits in the mid-periphery and optic nerve pallor. FAF showed a double concentric hyperautofluorescent ring: an inner perimacular ring which tended to be smaller in older patients, and an outer ring located along the vascular arcades, which appeared to extend over time towards the periphery and eventually became hypoautofluorescent. The inner and outer hyperautofluorescent rings were seen both on NIA and FAF at a similar localization. There was also a spatial correspondence between the loss of photoreceptor inner segment and outer segment junction on OCT and the area delimited by both double FAF and NIA rings. VF showed either midperipheral annular scotoma or constricted visual field loss in advanced cases, correlating with dystrophic non-functional retinal regions demarcated by the hyperautofluorescent annuli. A double ring of hyperautofluorescence was observed in all but one patient of two additional families, but not in patients harboring mutations in other ADRP genes, including PRPF3, RHO, RP1, PRPH2, PROM1 and CTRP5.Conclusions: The presence of a double concentric hyperautofluorescent ring of FAF may represent a highly penetrant early phenotypic marker of NR2E3-p.G56R-linked ADRP.
Pubmed
Web of science
Open Access
Yes
Create date
10/06/2012 14:01
Last modification date
20/08/2019 14:13
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