Treatment and longitudinal follow-up of CNV associated with pattern dystrophy with novel PRPH2 variant.

Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE

Publication: London : Informa Healthcare
Original Publication: Buren, The Netherlands : Aeolus Press, c1994-

Angiogenesis Inhibitors/*therapeutic use ; Choroidal Neovascularization/*diagnosis ; Choroidal Neovascularization/*drug therapy ; Codon, Nonsense/*genetics ; Peripherins/*genetics ; Retinal Dystrophies/*genetics ; Stargardt Disease/*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 ; Ranibizumab/therapeutic use ; Retinal Dystrophies/diagnosis ; Retinal Dystrophies/physiopathology ; Stargardt Disease/diagnosis ; Stargardt Disease/physiopathology ; Tomography, Optical Coherence ; Vascular Endothelial Growth Factor A/antagonists & inhibitors ; Visual Acuity/physiology

Background: Peripherin-2 (PRPH2) is a transmembrane glycoprotein crucial for the morphogenesis and stabilization of the photoreceptor outer segments. Variations in PRPH2 gene are associated with vision-threatening diseases.
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 PRPH2 gene was detected. The patient received intravitreal anti-vascular endothelial growth factor (anti-VEGF) treatment and maintained a good vision after six years.
Conclusion: We described a novel PRPH2 variant (Y184X) associated with PDSFF, its multimodal imaging, and long-term prognosis. Intravitreal anti-VEGF treatment can offer excellent visual prognosis in patients with PDSFF-associated CNV.

Keywords: PRPH2 gene; Pattern dystrophy simulating fundus flavimaculatus; choroidal neovascularization

0 (Angiogenesis Inhibitors)
0 (Codon, Nonsense)
0 (Coloring Agents)
0 (PRPH2 protein, human)
0 (Peripherins)
0 (VEGFA protein, human)
0 (Vascular Endothelial Growth Factor A)
IX6J1063HV (Indocyanine Green)
ZL1R02VT79 (Ranibizumab)

Date Created: 20210906 Date Completed: 20220204 Latest Revision: 20220204

20231215

10.1080/13816810.2021.1952617

34486473