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This abstract is assigned to session Poster session in O'Bistro
Presentation typeOB - poster
TitlePhenotype of RDH12-related Early-Onset Retinal Dystrophy
PurposeTo describe the phenotype in Early-Onset Retinal Dystrophy (EORD) related to RDH12 mutations.
MethodsTwenty-eight affected individuals from nineteen families with proven RDH12 mutations underwent a detailed ophthalmological examination including fundus photography using white, autofluorescent, near-infrared and red-free light and optical coherence tomography (OCT). In addition, psychophysical and electrophysiological testing (ISCEV-standard ERG) was performed.
ResultsAll twenty-eight affected individuals had a history of poor vision from the first few years of life. Fundoscopy showed marked atrophy and yellow discolouration of the macula. Spicular intraretinal pigmentation was present in the (mid)periphery of all fundi. In addition, a remarkable aspect of patchy preservation of functional retina in the retinal periphery was present until relatively late in the disease with additional significant sparing of the peripapillary area in all individuals. OCT confirmed the conservation of the peripapillary retinal structure. ERG revealed very reduced to absent responses under both scotopic and photopic conditions.
ConclusionThe phenotype of RDH12-related EORD includes an early macular atrophy with yellow discolouration, and patchy preservation of peripheral and peripapillary retina as a specific pathognomonic feature.
Author 1
Last nameDE ZAEYTIJD
InitialsJ
DepartmentGhent University Hospital
CityGhent
Author 2
Last nameVisser
InitialsL
DepartmentRotterdam Eye Hospital
CityRotterdam
Author 3
Last nameCoppieters
InitialsF
DepartmentCtr for Medical Genetics
CityGhent
Author 4
Last nameMunier
InitialsFL
DepartmentUniv of Lausanne & Jules Gonin Eye Hosp
CityLausanne
Author 5
Last nameWalraedt
InitialsS
DepartmentGhent Univ Hosp
CityGhent
Author 6
Last nameCasteels
InitialsI
DepartmentLeuven Univ Hosp
CityLeuven
Author 7
Last namede Ravel
InitialsT
DepartmentCtr for Human Genetics
CityLeuven
Author 8
Last nameCollin
InitialsR
DepartmentRadboud Univ Med Ctr
CityNijmegen
Author 9
Last nameDe Baere
InitialsE
DepartmentCtr for Med Genetics
CityGhent
Author 10
Last nameHamel
InitialsC
DepartmentCHU Hôpital Gui de Chaulia & 12INSERM U 583
CityMontpellier
Author 11
Last nameVan Den Born
InitialsLI
DepartmentRotterdam Eye Hosp
CityRotterdam
Author 12
Last nameLeroy
InitialsBP
DepartmentCtr for Med Genetics & Dept of Ophth
CityGhent
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