Treatment and longitudinal follow-up of CNV associated with pattern dystrophy with novel
Angiogenesis Inhibitors
/ therapeutic use
Choroidal Neovascularization
/ diagnosis
Codon, Nonsense
/ genetics
Coloring Agents
/ administration & dosage
Computed Tomography Angiography
Fluorescein Angiography
Follow-Up Studies
Humans
Indocyanine Green
/ administration & dosage
Intravitreal Injections
Male
Middle Aged
Multimodal Imaging
Peripherins
/ genetics
Ranibizumab
/ therapeutic use
Retinal Dystrophies
/ diagnosis
Stargardt Disease
/ diagnosis
Tomography, Optical Coherence
Vascular Endothelial Growth Factor A
/ antagonists & inhibitors
Visual Acuity
/ physiology
PRPH2 gene
Pattern dystrophy simulating fundus flavimaculatus
choroidal neovascularization
Journal
Ophthalmic genetics
ISSN: 1744-5094
Titre abrégé: Ophthalmic Genet
Pays: England
ID NLM: 9436057
Informations de publication
Date de publication:
12 2021
12 2021
Historique:
pubmed:
7
9
2021
medline:
5
2
2022
entrez:
6
9
2021
Statut:
ppublish
Résumé
Peripherin-2 (PRPH2) is a transmembrane glycoprotein crucial for the morphogenesis and stabilization of the photoreceptor outer segments. Variations in Clinical manifestations and multimodal imaging were presented, as well as treatment history and six-year follow-up. In addition, genetic testing was performed to confirm the diagnosis. In this report, we present an extremely rare case of choroidal neovascularization (CNV) secondary to pattern dystrophy simulating fundus flavimaculatus (PDSFF). Multimodal imaging showed typical symmetric yellow flecks in posterior pole and choroidal neovascularization requiring timely treatment. A novel nonsense variant of c.552 C > G; p.Y184X in We described a novel
Sections du résumé
BACKGROUND
Peripherin-2 (PRPH2) is a transmembrane glycoprotein crucial for the morphogenesis and stabilization of the photoreceptor outer segments. Variations in
METHODS
Clinical manifestations and multimodal imaging were presented, as well as treatment history and six-year follow-up. In addition, genetic testing was performed to confirm the diagnosis.
RESULTS
In this report, we present an extremely rare case of choroidal neovascularization (CNV) secondary to pattern dystrophy simulating fundus flavimaculatus (PDSFF). Multimodal imaging showed typical symmetric yellow flecks in posterior pole and choroidal neovascularization requiring timely treatment. A novel nonsense variant of c.552 C > G; p.Y184X in
CONCLUSION
We described a novel
Identifiants
pubmed: 34486473
doi: 10.1080/13816810.2021.1952617
doi:
Substances chimiques
Angiogenesis Inhibitors
0
Codon, Nonsense
0
Coloring Agents
0
PRPH2 protein, human
0
Peripherins
0
VEGFA protein, human
0
Vascular Endothelial Growth Factor A
0
Indocyanine Green
IX6J1063HV
Ranibizumab
ZL1R02VT79
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM