Korean J Ophthalmol.  2008 Dec;22(4):263-267. 10.3341/kjo.2008.22.4.263.

Ophthalmologic Findings of Boucher-Neuhauser Syndrome

• Yu SI
• Kim JL
• Lee SG
• Kim HW
• Kim SJ

• KMID: 1084216
• DOI: http://doi.org/10.3341/kjo.2008.22.4.263

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.

Keyword

Boucher-Neuhauser syndrome; Chorioretinal dystrophy

MeSH Terms

Adolescent
Atrophy
Cerebellum/pathology
Coloring Agents/diagnostic use
Electroretinography
Fluorescein Angiography
Humans
Hypogonadism/*diagnosis/genetics
Indocyanine Green/diagnostic use
Magnetic Resonance Imaging
Male
Photoreceptor Cells, Vertebrate/physiology
Retinal Degeneration/*diagnosis/genetics
Retinal Pigment Epithelium/*pathology
Retinitis Pigmentosa/*diagnosis/genetics/physiopathology
Spinocerebellar Degenerations/*diagnosis/genetics
Syndrome
Tomography, Optical Coherence

Figure

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

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  Fig. 2 (A, B) Fundus photograph illustrates a pigmented stippling and marked loss of RPE ; choroidal vessel are easily seen. (C, D) Fluorescein angiogram discloses a profound loss of RPE and choroicapillaris. late arteriovenous-phase fluorescein angiogram shows normal fluorescence of the retinal arteries. Large choroidal vessels can be seen in some areas and the ground-glass fluorescence of the choriocapillaris in other areas where the retinal pigment epithelium and choriocapillaris are more intact. (E, F) Indocyanine green angiography discloses a profound loss of RPE and choroicapillaris. Late arteriovenous-phase fluorescein angiogram shows normal fluorescence of the retinal arteries. Large choroidal vessels can be seen in some areas and the ground-glass fluorescence of the choriocapillaris in other areas where the retinal pigment epithelium and choriocapillaris are more intact. (G, H) OCT showed retinal thining, blunting of the foveal pit, and disappearance of the outer nuclear layer. The foveal center measured 204/ 174 µm.

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  Fig. 3 Electroretinography shows marked reduced cone and rod response.

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