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.
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.
Authors: R Jalkanen; M Mäntyjärvi; R Tobias; J Isosomppi; E-M Sankila; T Alitalo; N T Bech-Hansen Journal: J Med Genet Date: 2006-02-27 Impact factor: 6.318
Authors: Bo Chang; John R Heckenlively; Philippa R Bayley; Nicholas C Brecha; Muriel T Davisson; Norm L Hawes; Arlene A Hirano; Ronald E Hurd; Akihiro Ikeda; Britt A Johnson; Maureen A McCall; Catherine W Morgans; Steve Nusinowitz; Neal S Peachey; Dennis S Rice; Kirstan A Vessey; Ronald G Gregg Journal: Vis Neurosci Date: 2006 Jan-Feb Impact factor: 3.241
Authors: Hanna Regus-Leidig; Jenny Atorf; Andreas Feigenspan; Jan Kremers; Marion A Maw; Johann Helmut Brandstätter Journal: PLoS One Date: 2014-01-21 Impact factor: 3.240