Autofluorescence Study In NR2E3 p.G56R-linked Autosomal Dominant Retinitis Pigmentosa In A Single Kindred

Tran, H.V.; Escher, Pascal; Vaclavik, V.; Favre, I.; Bajrami, H.; Borruat, F.X.; Schorderet, D.F.; Munier, F.L. (2011). Autofluorescence Study In NR2E3 p.G56R-linked Autosomal Dominant Retinitis Pigmentosa In A Single Kindred. In: ARVO E-Abstract 6604. Fort Lauderdale: Association for Research in Vision and Ophthalmology

Purpose: To date, the genotype/phenotype correlation of p.G56R-linked autosomal dominant retinitis pigmentosa (ADRP) is limited to less than 10 kindred. The purpose of this study is to report an unusual appearance of fundus autofluorescence (AF) with NR2E3 p.G56R-linked ADRP in a single kindred.Methods: Patients were enrolled among three generations in a previously unreported family. Molecular diagnosis was performed on all exons of NR2E3 and a p.G56R mutation was identified in affected family members only. Examinations included fundus photography, visual fields, optical coherence tomography, AF, near-infrared AF and ISCEV-standard electrophysiology (ERG).Results: Among 10 examined family members, 5 were affected. The youngest and oldest patients were 16 and 65 years old, respectively. Fundus examination revealed a range of retinal disorder from normal to optic nerve pallor, attenuated arterial caliber and bone spicule-like pigment deposits. In all patients, AF showed a double hyperfluorescent ring; an inner paramacular ring which extension was comparable among patients and an outer ring along the vascular arcades which extended towards periphery in older patients and became hypofluorescent. Maximal scotopic ERGs when recordable showed an increased a/b wave ratio.Conclusions: A double hyperfluorescent ring on AF is an uncommon observation and might be a specific clinical finding in NR2E3 p.G56R-linked ADRP. The consistency of that finding in all affected members of our 3-generation family confirms a previous study. Further analysis is required to determine whether AF changes are associated with particular retinal layer abnormalities.

Item Type:

Conference or Workshop Item (Abstract)

Division/Institute:

04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Ophthalmology

UniBE Contributor:

Escher, Pascal

Subjects:

600 Technology > 610 Medicine & health

Publisher:

Association for Research in Vision and Ophthalmology

Language:

English

Submitter:

PD Dr. Pascal Escher

Date Deposited:

11 Jul 2017 09:06

Last Modified:

31 Jul 2017 08:31

URI:

https://boris.unibe.ch/id/eprint/101779

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