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Deze abstract is toegekend aan sessie AOB Poster session 2 - Inflammatory pathology – Anterior segment – Ophthalmogenetics - Miscellaneous
TitelOguchi disease due to a novel mutation in the GRK1 gene
Abstract Nr.2033
DoelTo present the phenotype and genotype of a patient with Oguchi disease, a rare autosomal recessive form of congenital stationary night blindness
MethodesA 20-year old lady of Indian ethnicity presented with a history of congenital nyctalopia. She underwent an extensive ophthalmological and genetic work-up.
ResultatenBCVA was 6/6 in both eyes. Slit-lamp examination was unremarkable. Fundoscopy revealed a bilateral, widespread golden-yellow discoloration and peripheral patches of normal, darker pigmentation. Blue-light fundus autofluorescence imaging and visual field testing were normal. Spectral domain OCT showed a normal anatomic retinal structure, however with hyperreflectivity and blending of the ISe, COST and RPE layers. Absent rod responses in the dark-adapted state, electronegative maximal combined responses and subnormal light-adapted responses were detected on full-field ERG. After prolonged dark-adaptation, the fundus appearance was normal (Mizuo-Nakamura phenomenon) with partial recovery of the rod-specific ERG responses. DNA analysis confirmed the clinical diagnosis of Oguchi disease and revealed homozygosity for a novel deletion in the GRK1 gene (c.1549_1559del - p.Pro517Glyfs*).
ConclusieA patient with Oguchi disease due to homozygosity for a novel mutation in the GRK1 gene is described, increasing the total number of causative mutations and confirming the role of GRK1 in the pathogenesis of this very rare disorder.
BelangenverstrengelingNee
Auteur 1
NaamDE ZAEYTIJD
InitialenJ
InstituutGhent University Hospital
StadGhent
Auteur 2
NaamZeitz
InitialenC
InstituutInstitut de la Vision
StadParis
Auteur 3
NaamLeroy
InitialenBP
InstituutGhent University Hospital & The Children’s Hospital of Philadelphia
StadGhent & Philadelphia
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