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Cet abstract a été assigné à session AOB Poster session 2 - Inflammatory pathology – Anterior segment – Ophthalmogenetics - Miscellaneous

Titre	Oguchi disease due to a novel mutation in the GRK1 gene
Abstract Nr.	2033

But	To present the phenotype and genotype of a patient with Oguchi disease, a rare autosomal recessive form of congenital stationary night blindness
Méthodes	A 20-year old lady of Indian ethnicity presented with a history of congenital nyctalopia. She underwent an extensive ophthalmological and genetic work-up.
Résultats	BCVA 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*).
Conclusion	A 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.
Conflit d'intérêt	Non

Auteur 1

Nom	DE ZAEYTIJD
Initiales	J
Institut	Ghent University Hospital
Ville	Ghent

Auteur 2

Nom	Zeitz
Initiales	C
Institut	Institut de la Vision
Ville	Paris

Auteur 3

Nom	Leroy
Initiales	BP
Institut	Ghent University Hospital & The Children’s Hospital of Philadelphia
Ville	Ghent & Philadelphia