ABSTRACT
CLINICAL CASE: We report a case of a 12 year old male with vision loss (0.1 in both eyes). He also had sensorineural hearing loss (cochlear implant), asthma, dermatitis and alopecia. He was diagnosed with retrobulbar optic neuropathy, and was started on a treatment of intravenous corticosteroids, showing no improvement. A screening for congenital metabolopathies revealed a biotinidase deficiency, and treatment with biotin achieved a rapid clinical improvement. DISCUSSION: When faced with an optic neuropathy in a child, we must always look for a biotinidase deficiency, because biotin therapy is the only treatment that achieves a clinical improvement.
Subject(s)
Biotinidase Deficiency/complications , Optic Nerve Diseases/etiology , Biotin/therapeutic use , Biotinidase Deficiency/diagnosis , Biotinidase Deficiency/drug therapy , Child , Fundus Oculi , Humans , Male , Optic Nerve Diseases/diagnosis , Optic Nerve Diseases/drug therapy , Treatment Outcome , Vision Disorders/diagnosis , Vision Disorders/drug therapy , Vision Disorders/etiology , Visual Acuity , Visual Field TestsABSTRACT
PURPOSE/METHOD: The choroidal neovascularization (CNV) may be associated with several types of choroidal tumors. The polypoidal choroidal vasculopathy (PVC) is a variant of the choroidal neovascularization. We present a case of PCV associated with melanocytoma of the optic nerve. RESULTS/CONCLUSIONS: Although we cannot rule out that these two entities are independent of each other, the reported cases of choroidal tumors with CNV, the publication of a similar case and the epidemiological similarity between melanocytoma and PCV leads us to think that they may be related. We confirm the efficacy of laser argon treatment (Arch Soc Esp Oftalmol 2002; 77: 455-458).
Subject(s)
Choroidal Neovascularization/etiology , Nevus/complications , Optic Nerve Neoplasms/complications , Choroidal Neovascularization/diagnosis , Female , Humans , Middle Aged , Nevus/diagnosis , Optic Nerve Neoplasms/diagnosisABSTRACT
Objetivo/Método: La neovascularización coroidea (NVC) puede asociarse a varios tipos de tumores coroideos. La vasculopatía coroidal polipoidea (VCP) es una variante de la neovascularización coroidea. Presentamos un caso de VCP asociado a melanocitoma del disco óptico. Resultados/Conclusiones: Aunque no podemos descartar que sean dos entidades independientes, la existencia de casos descritos en la literatura de tumores coroideos asociados a neovascularización coroidea, la aparición de otro caso similar al nuestro en la literatura, y las coincidencias epidemiológicas entre ambos cuadros nos induce a pensar que la VCP y el melanocitoma podrían estar relacionados. Se confirma la eficacia del tratamiento con la fotocoagulación con láser de Argón (AU)
