Abstract：
The 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.
To systematically report the systemic and ocular manifestations of phacomatosis cesioflammea and phacomatosis cesioflammeo-marmorata, and to investigate a glaucoma risk scoring system.
In 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.
A 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.
In 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.
To systematically report the systemic and ocular manifestations of phacomatosis cesioflammea and phacomatosis cesioflammeo-marmorata, and to investigate a glaucoma risk scoring system.
In 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.
A 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.
In 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.
摘要：
色素性血管瘤病（PPV）的眼部特征很少报道。青光眼是这种疾病患者失明的主要原因。为了保护这些患者的视力，尽早发现青光眼很重要。
系统报告全麻和全麻的全身和眼部表现，并研究青光眼风险评分系统。
在这项前瞻性研究中，纳入2014年至2021年的PPV患者.收集临床信息，并评估了与青光眼的关联。评估评分系统的适用性。对报告的PPV病例进行了系统的文献回顾和分析。
共纳入28例PPV患者。他们的眼部表现相似，范围从巩膜色素沉着过度（78.5%），青光眼（75%），脉络膜血管瘤（38%），视网膜血管异常（48%），角膜色素沉着过度，虹膜,晶状体和眼底。青光眼与多种因素有关，尤其是厚脉络膜(比值比:2.61;p=0.008)和弥漫性上巩膜色素沉着过度(比值比:41.3;p=0.027)。风险评分系统的特点是预测青光眼的敏感性（84％）和特异性（80％；AUC=0.91）。
除了涉及系统系统，头孢霉素和头孢霉素也代表了眼血管畸形和色素沉着过度的特定范围。建议早期和定期进行详细的眼部检查。新颖的评分系统将有助于为视觉保护量身定制后续行动。
系统报告全麻和全麻的全身和眼部表现，并研究青光眼风险评分系统。
在这项前瞻性研究中，纳入2014年至2021年的PPV患者.收集临床信息，并评估了与青光眼的关联。评估评分系统的适用性。对报告的PPV病例进行了系统的文献回顾和分析。
共纳入28例PPV患者。他们的眼部表现相似，范围从巩膜色素沉着过度（78.5%），青光眼（75%），脉络膜血管瘤（38%），视网膜血管异常（48%），角膜色素沉着过度，虹膜,晶状体和眼底。青光眼与多种因素有关，尤其是厚脉络膜(比值比:2.61;p=0.008)和弥漫性上巩膜色素沉着过度(比值比:41.3;p=0.027)。风险评分系统的特点是预测青光眼的敏感性（84％）和特异性（80％；AUC=0.91）。
除了涉及系统系统，头孢霉素和头孢霉素也代表了眼血管畸形和色素沉着过度的特定范围。建议早期和定期进行详细的眼部检查。新颖的评分系统将有助于为视觉保护量身定制后续行动。
