Angioma retiniano como síndrome mascarada de tumor del nervio óptico en la enfermedad de Von Hippel-Lindau

Abstract

RESUMENCaso clínico: Varón de 35 años con antecedentes familiares de enfermedad de von Hippel-Lindau (VHL) diagnosticado de dos hemangiomas retinianos en ojo derecho (OD) y uno en ojo izquierdo. Las lesiones se trataron con crioterapia en OD y láserterapia en OI. A pesar de una aparente buena evolución de las lesiones retinianas hubo una progresiva disminución de la AV. Se realizó RM donde se evidenció lesiones tumorales del nervio óptico (NO) bilaterales compatibles con glioma, meningioma o hemangioblastoma. Actualmente: AV (OD): movimiento de manos y AV(OI): 0,6. Discusión: La presencia de los hemangiomas retinianos en este paciente hizo retrasar el diagnóstico de un tumor en el NO, infrecuente en esta entidad.Palabras clave: Enfermedad de von Hippel-Lindau, hemangioma retiniano, tumor del nervio ópti-co, hemangioblastoma del nervio óptico. COMUNICACIÓN CORTA ABSTRACTClinical case: A 35-year-old man with a family history of von Hippel-Lindau disease was diagnosed to have two retinal hemangiomas in the right eye and another in the left eye. The hemangiomas were treated with cryotherapy and laser photocoagulation respectively. Despite apparent good resolution of the retinal lesions, progressive visual loss was observed. An MRI was then performed and showed bilateral tumoral lesions of the optic nerve compatible with a glioma, meningioma or hemangioblastoma. Currently the visual acuity in his right eye is hand movement, and is 0.6 in the left eye. Discussion: The presence of the retinal hemangiomas delayed the diagnosis of an optic nerve tumor in this patient (Arch Soc Esp Oftalmol 2006; 81: 293-296).

Optic nerve and chiasm hemangioblastomas in von Hippel-Lindau disease: report of 12 cases and review of the literature

“…After 4 years of watchful waiting, his already poor left eye vision remained stable, but his right eye vision regressed to perceiving hand movements. After another 3 years, vision further declined in both eyes, and fundoscopy showed bilateral optic disc pallor ( 21 ).…”

“…Patients complain of sudden or gradual “vision loss” ( 5 , 10 , 12 , 14 – 18 , 20 , 21 , 25 , 27 – 29 , 31 , 33 ), blurry vision ( 37 ), difficulty reading ( 25 ) or narrowing of the visual field ( 10 , 20 ). Sometimes patients become progressively or very suddenly blind ( 28 , 37 ).…”

“…Intracanalicular compression may cause hypoesthesia in the V1 dermatome ( 5 ). Patients with advanced optic nerve or anterior optic pathway destruction may have a sluggish pupillary reaction to light ( 12 ), an afferent pupillary light defect ( 16 , 22 , 25 ), a relative afferent pupillary light defect ( 5 , 12 , 31 , 35 ), or a dilated pupil without direct light reflex ( 20 , 21 , 27 , 37 ). Visual acuity may range from normal to blind.…”

Optic nerve haemangioblastoma in association with von Hippel-Lindau syndrome: case report and literature review

“…Patients who have a personal or family history of VHL syndrome, visual disturbances and radiological evidence of optic nerve lesions should be considered and ONH are highly probable. 12 The patient underwent radiosurgery management for her ocular pathology and a ventricular shunt was performed to manage her obstructive hydrocephalus.…”

Optic Nerve Haemangioblastoma: Signs of Chronicity

“…Capillary haemangioma prevalence, however, has been shown to be stable after the age of 30 years [8]. There have been two cases with bilateral disease, both of which suffered devastating vision loss despite excision [9, 10]. Four cases were asymptomatic and diagnosed at the time of VHL screening [3, 11, 12].…”