OCT-angiography assessing quiescent and active choroidal neovascularization in retinitis pigmentosa associated with pathogenic variant.

PURPOSE

To report multimodal imaging findings including optical coherence tomography angiography (OCT-A) of a patient presenting with a quiescent choroidal neovascularization (CNV) in one eye and an active CNV in the fellow eye, complicating retinitis pigmentosa (RP) linked to pathogenic variant, with follow-up and management of both eyes.

METHODS

Observational case report.

RESULTS

A 40-year-old female with history of autosomal dominant RP consulted for acute visual loss in her right eye (RE). Multimodal imaging including OCT-A confirmed the diagnosis of active type 2 CNV in the RE and highlighted an incidental asymptomatic non-exudative "quiescent" CNV in the left eye (LE). This complication was managed by intra-vitreal Bevacizumab injections in the RE and regular monitoring of the LE. Frequent follow-up could detect early CNV activation signs in LE allowing early treatment. Mutation analysis of exons identified a known heterozygous pathogenic missense variation c.646C>T, p.P216S in exon 2.

CONCLUSION

Multimodal imaging and especially OCT-A can be of a great help in the diagnosis and the management of CNV complicating RP, even at the stage of quiescent CNV. In presence of neovascular complication, gene should be investigated because of its frequent macular involvement despite high phenotypic variability.