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TitrePhenotype of RDH12-related Early-Onset Retinal Dystrophy
ButTo describe the phenotype in Early-Onset Retinal Dystrophy (EORD) related to RDH12 mutations.
MéthodesTwenty-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.
RésultatsAll 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.
Auteur 1
NomDE ZAEYTIJD
InitialesJ
InstitutGhent University Hospital
VilleGhent
Auteur 2
NomVisser
InitialesL
InstitutRotterdam Eye Hospital
VilleRotterdam
Auteur 3
NomCoppieters
InitialesF
InstitutCtr for Medical Genetics
VilleGhent
Auteur 4
NomMunier
InitialesFL
InstitutUniv of Lausanne & Jules Gonin Eye Hosp
VilleLausanne
Auteur 5
NomWalraedt
InitialesS
InstitutGhent Univ Hosp
VilleGhent
Auteur 6
NomCasteels
InitialesI
InstitutLeuven Univ Hosp
VilleLeuven
Auteur 7
Nomde Ravel
InitialesT
InstitutCtr for Human Genetics
VilleLeuven
Auteur 8
NomCollin
InitialesR
InstitutRadboud Univ Med Ctr
VilleNijmegen
Auteur 9
NomDe Baere
InitialesE
InstitutCtr for Med Genetics
VilleGhent
Auteur 10
NomHamel
InitialesC
InstitutCHU Hôpital Gui de Chaulia & 12INSERM U 583
VilleMontpellier
Auteur 11
NomVan Den Born
InitialesLI
InstitutRotterdam Eye Hosp
VilleRotterdam
Auteur 12
NomLeroy
InitialesBP
InstitutCtr for Med Genetics & Dept of Ophth
VilleGhent
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