Ophthalmologic Findings of Boucher-Neuhauser Syndrome

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.

Reorganization of Photoreceptor Layer on Optical Coherence Tomography Concurrent with Visual Improvement after Macular Hole Surgery

To report three cases in which reorganization of the photoreceptor layer on optical coherence tomography (OCT) was concurrent with long-term visual recovery after macular hole surgery. Serial OCT scans of three eyes in which visual acuity continued to improve for 1 or more years after successful macular hole surgery were reviewed. Case 1. At postoperative four weeks, visual acuity was 20/100 with disorganized photoreceptor layer on OCT. The photoreceptor layer had been reorganized and visual acuity had improved to 20/25 by 1 year. Case 2. Two weeks after the operation, visual acuity was 20/125 and disorganization of the photoreceptor layer was noted. Visual acuity improved to 20/50 by four months. The photoreceptor layer had been partly reorganized and had appearance of a broken line. Visual acuity had improved to 20/40 and the photoreceptor layer had been reorganized further with a residual defect on OCT by 15 months. Case 3. Visual acuity at two weeks was 20/100. OCT revealed disorganization of the photoreceptor layer. Six months after the operation, the partly reorganized photoreceptor layer appeared as a broken line and visual acuity had reached 20/80. Visual acuity had improved further to 20/40 by 1 year, concurrent with improved organization of the photoreceptor layer. The reorganization of the photoreceptor layer plays a part in long-term improvement of visual acuity after macular hole surgery.