Retinal vascular disorders in a patient with phacomatosis pigmentovascularis

Author: Andres Romero Martinez (Spain)

Co-authors: Jose Luis Sanchez Vicente, Fernando López Herrero, Celia Leal Camarena, Maria Luque del Castillo, Bosco Gonzalez Jaúregui, Miguel Angel Montenegro Quintana

Purpose

Phacomatosis pigmentovascularis (PPV) is an uncommon sporadic genetic syndrome characterised by the coexistence of a capillary vascular malformation and a congenital pigmented skin lesion (epidermal nevus, nevus spilus or dermal melanocytosis). There are various groups of PPV that depend on the type of nevus associated with the vascular lesion. Patients can present only the skin condition or have systemic manifestations, including traumatic, neurologic and ophthalmologic manifestations. We report a case of phacomatosis cesioflammea with relevant ophthalmologic involvement.

Setting/Venue

A recently born female patient was diagnosed with type IIb phacomatosis pigmentovascularis and was treated with pulsed dye laser sessions for right hemifacial capillary malformation since birth. Follow-up was conducted by paediatric ophthalmology since the age of 3 years, and the patient was diagnosed with bilateral oculodermal melanocytosis (nevus of Ota).

Methods

At the age of 13 years, the patient was referred to a retina consultation for a lesion in the left eye fundus. Her vision with correction was 1 in both eyes. The eye fundus examination revealed a pigmented choroidal naevus in the superior temporal retina of one optic disc diameter with defined edges. We requested fluorescein angiography and optical coherence tomography angiography.

Results

The angiography showed no disorders in the right eye but revealed a lack of perfusion in the peripheral temporal and inferior retina of the left eye, with areas of diffuse vascular leakage. We also found a retinal macrovessel possibly related to the aberrant retinal vessels described in the patient’s condition. The naevus showed no angiographic signs of interest. The optical coherence tomography angiography ruled out disorders of the foveal avascular zone.

Conlusions

PPV constitutes an uncommon entity that can be accompanied by various ocular manifestations. An eye fundus study using various imaging techniques is essential for detecting retinal and choroidal disorders.

Financial Disclosure

NO FINANCIAL RELATIONS