Clinical Insights Into a Large Cohort of Phakomatosis Pigmentovascularis

Phakomatosis pigmentovascularis, a multisystem disorder, exhibited male predominance, with Phakomatosis cesioflammea as the most prevalent type. Glaucoma affected 88% of eyes, with three-quarters requiring surgery. Systemic issues, notably epilepsy and anemia, were prevalent in over half of all subjects.

To report the clinical profile and demographic characteristics of a large cohort with Phakomatosis pigmentovascularis (PPV).

Included 119 eyes of 60 patients with PPV between January 1996 and January 2023 (27 y).

This is a retrospective multicentric study involving 4 tertiary network institutes in India. The diagnosis of PPV was established based on the concurrent presence of pigmentary nevi and capillary malformation, with classification conducted according to the Happle classification system. Demographic information, clinical features at the time of diagnosis (both ocular and systemic), the prevalence of glaucoma, details of management strategies used, and the subsequent outcomes were meticulously documented.

Key outcome measures included the prevalence of glaucoma among patients, the frequency of systemic abnormalities noted, and the various surgical interventions performed along with their respective success rates.

The cohort had male preponderance (male: female ratio of 67%:33%), with median age of presentation at 0.48 (range=0.12, 7.77) years. Glaucoma was observed in 105 eyes (88.2%), with bilateral involvement present in 75% of cases. The most prevalent phenotype observed within the cohort was Phakomatosis cesioflammea (Type iib), affecting 65% of patients. Systemic abnormalities were noted in 51.6% of cases, with epilepsy (45%) and anemia (36%) being the most frequently documented conditions. Surgical intervention was required for 64.7% of eyes for intraocular pressure control, with combined trabeculotomy and trabeculectomy being the predominant procedure used. Surgical success was noted in 87% of eyes, and 19.4% eyes had complications.

Phakomatosis cesioflammea (Type iib) was the most common subgroup noted. The majority of patients had glaucoma, often bilateral, with two-thirds requiring surgical intervention for IOP control. Systemic abnormalities were common, emphasizing the need for comprehensive multisystem evaluation in these patients.