Ophthalmologic Findings of Boucher-Neuhauser Syndrome
Korean Journal of Ophthalmology
;
: 263-267, 2008.
Artículo
en Inglés
| WPRIM
| ID: wpr-115631
ABSTRACT
To report a case of Boucher-Neuhauser syndrome, which is an autosomal recessive disorder characterized by the triad of spinocerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism. An 18-year-old man was seen for visual problems, which had been diagnosed as retinitis pigmentosa at the age of 12 years. His puberty was delayed. At 16 years of age, the patient experienced progressive deterioration of his balance and gait disturbance. Then he was referred to our clinic because Boucher-Neuhauser syndrome was suspected. He had no specific family history; his visual acuity was 0.04 in both eyes. We observed broad retinal pigment epithelium atrophy and degeneration in both fundi. Both fluorescein and indocyanine green angiography showed choriocapillaris atrophy in the posterior pole area and midperiphery. Macular optical coherence tomography showed thinning of the neurosensory retina. An electroretinographic examination showed no photopic or scotopic responses. The Boucher-Neuhauser syndrome should be included in the differential diagnosis of patients with retinitis pigment epithelium atrophy and degeneration.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Degeneración Retiniana
/
Atrofia
/
Síndrome
/
Imagen por Resonancia Magnética
/
Angiografía con Fluoresceína
/
Degeneraciones Espinocerebelosas
/
Cerebelo
/
Retinitis Pigmentosa
/
Células Fotorreceptoras de Vertebrados
/
Tomografía de Coherencia Óptica
Tipo de estudio:
Estudio diagnóstico
Límite:
Adolescente
/
Humanos
/
Masculino
Idioma:
Inglés
Revista:
Korean Journal of Ophthalmology
Año:
2008
Tipo del documento:
Artículo
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