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Ophthalmologic findings of Boucher-Neuhäuser syndrome.

Yu SI, Kim JL, Lee SG, Kim HW, Kim SJ - Korean J Ophthalmol (2008)

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology, College of Medicine, Inje University, Pusan, Korea.

ABSTRACT
To report a case of Boucher-Neuhäuser 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-Neuhäuser 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-Neuhäuser syndrome should be included in the differential diagnosis of patients with retinitis pigment epithelium atrophy and degeneration.

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Brain MRI shows the diffuse atrophy in the cerebellum. Grossly normal pituitary gland.
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Figure 1: Brain MRI shows the diffuse atrophy in the cerebellum. Grossly normal pituitary gland.

Mentions: An 18-year-old Asian man had experienced decreased vision in both eyes over the past 6 years. His medical history indicated delayed puberty. At 16 years of age, the patientexperienced progressive deterioration of his balance and gait disturbance. Magnetic resonance imaging of the brain showed diffuse atrophy of the cerebellar hemispheres (Fig. 1).


Ophthalmologic findings of Boucher-Neuhäuser syndrome.

Yu SI, Kim JL, Lee SG, Kim HW, Kim SJ - Korean J Ophthalmol (2008)

Brain MRI shows the diffuse atrophy in the cerebellum. Grossly normal pituitary gland.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2629917&req=5

Figure 1: Brain MRI shows the diffuse atrophy in the cerebellum. Grossly normal pituitary gland.
Mentions: An 18-year-old Asian man had experienced decreased vision in both eyes over the past 6 years. His medical history indicated delayed puberty. At 16 years of age, the patientexperienced progressive deterioration of his balance and gait disturbance. Magnetic resonance imaging of the brain showed diffuse atrophy of the cerebellar hemispheres (Fig. 1).

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology, College of Medicine, Inje University, Pusan, Korea.

ABSTRACT
To report a case of Boucher-Neuhäuser 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-Neuhäuser 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-Neuhäuser syndrome should be included in the differential diagnosis of patients with retinitis pigment epithelium atrophy and degeneration.

Show MeSH
Related in: MedlinePlus