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BackgroundThe ocular features of phacomatosis pigmentovascularis (PPV) have rarely been reported, and glaucoma is the leading cause of blindness in patients with this condition. To protect vision in these patients, it is important to identify glaucoma as early as possible.ObjectivesTo systematically report the systemic and ocular manifestations of phacomatosis cesioflammea and phacomatosis cesioflammeo-marmorata, and to investigate a glaucoma risk scoring system.Materials & MethodsIn this prospective study, patients with PPV from 2014 to 2021 were included. Clinical information was collected, and associations with glaucoma were evaluated. The suitability of the scoring system was assessed. A systematic literature review and analysis of reported cases of PPV was performed.ResultsA total of 28 participants with PPV were included. Their ocular findings were similar, ranging from episcleral hyperpigmentation (78.5%), glaucoma (75%), choroid haemangioma (38%), and retinal vascular abnormalities (48%), to hyperpigmentation of the cornea, iris, lens and fundus. Glaucoma was associated with multiple factors, especially a thick choroid (odds ratio: 2.61; p = 0.008) and a diffuse mass-type of episcleral hyperpigmentation (odds ratio: 41.3; p = 0.027). The risk scoring system was characterized by high sensitivity (84%) and specificity (80%; AUC= 0.91) in predicting glaucoma.ConclusionIn addition to involving the systemic system, phacomatosis cesioflammea and phacomatosis cesioflammeo-marmorata also represent a specific spectrum of ophthalmic vascular malformations and hyperpigmentation. Early and periodic detailed ocular examination are recommended. The novel scoring system will help to tailor follow-up for visual protection.