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http://purl.uniprot.org/citations/12860808http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/12860808http://www.w3.org/2000/01/rdf-schema#comment"

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."xsd:string
http://purl.uniprot.org/citations/12860808http://purl.org/dc/terms/identifier"doi:10.1001/archopht.121.7.1028"xsd:string
http://purl.uniprot.org/citations/12860808http://purl.uniprot.org/core/author"Ito S."xsd:string
http://purl.uniprot.org/citations/12860808http://purl.uniprot.org/core/author"Nakamura M."xsd:string
http://purl.uniprot.org/citations/12860808http://purl.uniprot.org/core/author"Miyake Y."xsd:string
http://purl.uniprot.org/citations/12860808http://purl.uniprot.org/core/author"Terasaki H."xsd:string
http://purl.uniprot.org/citations/12860808http://purl.uniprot.org/core/author"Piao C.H."xsd:string
http://purl.uniprot.org/citations/12860808http://purl.uniprot.org/core/date"2003"xsd:gYear
http://purl.uniprot.org/citations/12860808http://purl.uniprot.org/core/name"Arch Ophthalmol"xsd:string
http://purl.uniprot.org/citations/12860808http://purl.uniprot.org/core/pages"1028-1033"xsd:string
http://purl.uniprot.org/citations/12860808http://purl.uniprot.org/core/title"Retinal and optic disc atrophy associated with a CACNA1F mutation in a Japanese family."xsd:string
http://purl.uniprot.org/citations/12860808http://purl.uniprot.org/core/volume"121"xsd:string
http://purl.uniprot.org/citations/12860808http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/12860808
http://purl.uniprot.org/citations/12860808http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/12860808
http://purl.uniprot.org/uniprot/#_O60840-mappedCitation-12860808http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/12860808
http://purl.uniprot.org/uniprot/O60840http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/12860808