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 |
Nom | DE ZAEYTIJD |
Initiales | J |
Institut | Ghent University Hospital |
Ville | Ghent |
Nom | Zeitz |
Initiales | C |
Institut | Institut de la Vision |
Ville | Paris |
Nom | Leroy |
Initiales | BP |
Institut | Ghent University Hospital & The Children’s Hospital of Philadelphia |
Ville | Ghent & Philadelphia |