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Makoto Nakamura, MD; Sei Ito, MD; Chang-Hua Piao, MD; Hiroko Terasaki, MD; Yozo Miyake, MD

Arch Ophthalmol. 2003;121:1028-1033.

Objective  To describe retinal and optic disc atrophy and a progressive decrease of visual function in 2 Japanese brothers. Both had a mutation in the CACNA1F gene, the causative gene of incomplete congenital stationary night blindness (CSNB).

Methods  We studied observational case reports and performed comprehensive ophthalmologic examinations including best-corrected visual acuity, biomicroscopy, ophthalmoscopy, fundus photography, and electroretinography. Genomic DNA was extracted from the peripheral blood, and all 48 exons of the CACNA1F gene were directly sequenced.

Results  The 2 brothers had retinal and optic disc atrophy and a progressive reduction of visual acuity with increasing age. Although these clinical features are not typical of previous patients with incomplete CSNB, both patients had an in-frame mutation with deletion and insertion in exon 4 of the CACNA1F gene. In both patients, the bright-flash, mixed rod-cone electroretinogram had a negative configuration, a characteristic of incomplete CSNB. However, the full-field scotopic and photopic electroretinograms were nonrecordable, indicating severe, diffuse retinal malfunction, which is not typical in incomplete CSNB.

Conclusion  These findings indicate that a mutation of the CACNA1F gene may be associated with retinal and optic disc atrophy with a progressive decline of visual function.

Clinical Relevance  In patients with retinal and optic disc atrophy associated with negative-type electroretinograms, a CACNA1F gene mutation should be considered.

From the Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan. Drs Nakamura, Ito, Piao, Terasaki, and Miyake have no relevant financial interest in this article.

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