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Deze abstract is toegekend aan sessie Poster session in O'Bistro
TitelPhenotype of RDH12-related Early-Onset Retinal Dystrophy
DoelTo describe the phenotype in Early-Onset Retinal Dystrophy (EORD) related to RDH12 mutations.
MethodesTwenty-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.
ResultatenAll 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.
ConclusieThe 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.
Auteur 1
NaamDE ZAEYTIJD
InitialenJ
InstituutGhent University Hospital
StadGhent
Auteur 2
NaamVisser
InitialenL
InstituutRotterdam Eye Hospital
StadRotterdam
Auteur 3
NaamCoppieters
InitialenF
InstituutCtr for Medical Genetics
StadGhent
Auteur 4
NaamMunier
InitialenFL
InstituutUniv of Lausanne & Jules Gonin Eye Hosp
StadLausanne
Auteur 5
NaamWalraedt
InitialenS
InstituutGhent Univ Hosp
StadGhent
Auteur 6
NaamCasteels
InitialenI
InstituutLeuven Univ Hosp
StadLeuven
Auteur 7
Naamde Ravel
InitialenT
InstituutCtr for Human Genetics
StadLeuven
Auteur 8
NaamCollin
InitialenR
InstituutRadboud Univ Med Ctr
StadNijmegen
Auteur 9
NaamDe Baere
InitialenE
InstituutCtr for Med Genetics
StadGhent
Auteur 10
NaamHamel
InitialenC
InstituutCHU Hôpital Gui de Chaulia & 12INSERM U 583
StadMontpellier
Auteur 11
NaamVan Den Born
InitialenLI
InstituutRotterdam Eye Hosp
StadRotterdam
Auteur 12
NaamLeroy
InitialenBP
InstituutCtr for Med Genetics & Dept of Ophth
StadGhent
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