Retinal Vascular Abnormalities in Phakomatosis Pigmentovascularis

Document Type

Article

Publication Date

7-16-2019

Publication Title

Ophthalmol Retina

Abstract

PURPOSE: To describe the spectrum of retinal vascular abnormalities in patients with phakomatosis pigmentovascularis (PPV).

DESIGN: Multicenter, retrospective, noncomparative, consecutive case series.

METHODS: Eligible patients underwent detailed retinal examination including indirect ophthalmoscopy. Ultra-widefield fundus imaging, including color fundus photography and angiography, was performed using standardized protocols, and findings were recorded and reviewed and analyzed.

PARTICIPANTS: Three patients with a clinical diagnosis of PPV are presented.

RESULTS: Evaluation of all patients (n = 6 eyes of 3 patients) with widefield fluorescein angiography showed several retinal vascular abnormalities, including peripheral retinal nonperfusion (n = 3 eyes), peripheral vascular leakage (n = 3 eyes), aberrant retinal vessels (n = 1 eyes), vascular tortuosity (n = 1 eyes), and disruption of the foveal avascular zone including fovea plana (n = 3 eyes). In addition, 2 eyes demonstrated peripheral retinal vascular straightening and leakage similar to the features of familial exudative vitreoretinopathy. One of the patients was a carrier of a somatic GNA11 R183C pathogenic variant that has been associated with PPV.

CONCLUSIONS: Fluorescein angiography, especially with widefield capability, reveals numerous retinal vascular abnormalities in patients with PPV. Considering the association of GNA11 pathogenic variants with PPV and allied disorders, these observations may suggest a role of guanine-binding proteins (G-proteins) in retinal vascular development. Supplemental material available at www.ophthalmologyretina.org.

PubMed ID

31420298

ePublication

ePub ahead of print

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