Retinal Vasoproliferative Tumor in Ocular Albinism

Abstract

Patient: Male, 42-year-old Final Diagnosis: Ocular albinism Symptoms: Vision loss Medication: — Clinical Procedure: — Specialty: Ophthalmology Objective: Rare disease Background: Retinal vasoproliferative tumor (VPT) is a type of ocular vascular tumor that commonly occurs idiopathically and can be associated with secondary ocular diseases. Ocular albinism is an X-linked inherited disease and distinguished from oculocutaneous albinism by less hair and skin involvement. Case Report: A 42-year-old man with ocular albinism and moderate myopia presented with a history of insidious decrease in vision in both eyes over a period of months. On examination, the horizontal pendular nystagmus was present and diffuse iris transillumination defects were observed bilaterally. A fundus examination revealed a de-pigmented fundus with visible choroidal vessels, foveal hypoplasia, and a unilateral, elevated, vascular lesion in the superotemporal aspect of the retinal periphery. Optical coherence tomography of the lesion confirmed the retinal location and fluorescein fundus angiography indicated its vascular nature. B-scan ultrasonography was performed to measure the dimensions of the lesion. Conclusions: Rare retinal VPT has been reported with systemic and ocular associations, but it has never been reported in the literature in association with ocular albinism. Multiple treatment modalities have been described for the tumor, but observation can be considered in the absence of secondary consequences of the VPT. Retinal VPT should be included in the differential diagnosis of any retinal vascular abnormalities in patients with ocular albinism.

Revisión bibliográfica sobre Albinismo Oculocutáneo y Ocular

“…La herencia del AO se encuentra ligada al cromosoma X o una forma autosómica recesiva, la función visual se encuentra disminuida con signos del segmento anterior y posterior, además de tener una decusación anormal del quiasma óptico hacia el hemisferio contralateral (27).…”

“…Se debe diferenciar entre hipopigmentación congénita generalizada con movimiento ocular normal y AOC, por medio de una evaluación de trastornos nutricionales o metabólicos, dentro de los cuales se incluye, fenilcetonuria, homocistinuria, histidinemia, síndrome de Menkes y Kwashiorkor. Si el paciente presenta problema auditivos se puede considerar un síndrome de Tietz (27,51,52).…”