Two novel compound heterozygous
Mizuo Nakamura phenomenon
OCT
Oguchi disease
SAG gene
congenital stationary night blindness
Journal
European journal of ophthalmology
ISSN: 1724-6016
Titre abrégé: Eur J Ophthalmol
Pays: United States
ID NLM: 9110772
Informations de publication
Date de publication:
Nov 2022
Nov 2022
Historique:
pubmed:
25
6
2021
medline:
4
10
2022
entrez:
24
6
2021
Statut:
ppublish
Résumé
Oguchi disease is a rare autosomal recessive retinal dystrophy, characterized by congenital stationary blindness and caused by pathogenic variants in A 60-year-old female complaining congenital stationary night blindness was investigated through fundus photograph, optical coherence tomography (OCT), electroretinography (ERG), and genetic testing. Fundus examination showed a golden-grayish fundus aspect. The rod response of the scotopic ERG was undetectable and mixed rod-cone response was electronegative. Fundus photographs obtained in light and in prolonged dark-adapted conditions allowed to detect the Mizuo-Nakamura phenomenon. Light condition OCT over the abnormal retinal regions showed high-intensity areas in the outer photoreceptor segment layer, that reduced with prolonged dark adaption. Genetic testing identified two rare heterozygous sequence variants in the We identified the first Italian compound heterozygous patient harboring two novel alterations in the
Sections du résumé
BACKGROUND
UNASSIGNED
Oguchi disease is a rare autosomal recessive retinal dystrophy, characterized by congenital stationary blindness and caused by pathogenic variants in
MATERIALS AND METHODS
UNASSIGNED
A 60-year-old female complaining congenital stationary night blindness was investigated through fundus photograph, optical coherence tomography (OCT), electroretinography (ERG), and genetic testing.
RESULTS
UNASSIGNED
Fundus examination showed a golden-grayish fundus aspect. The rod response of the scotopic ERG was undetectable and mixed rod-cone response was electronegative. Fundus photographs obtained in light and in prolonged dark-adapted conditions allowed to detect the Mizuo-Nakamura phenomenon. Light condition OCT over the abnormal retinal regions showed high-intensity areas in the outer photoreceptor segment layer, that reduced with prolonged dark adaption. Genetic testing identified two rare heterozygous sequence variants in the
CONCLUSIONS
UNASSIGNED
We identified the first Italian compound heterozygous patient harboring two novel alterations in the
Identifiants
pubmed: 34162253
doi: 10.1177/11206721211027422
doi:
Substances chimiques
G-Protein-Coupled Receptor Kinase 1
EC 2.7.11.14
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM