Incomplete congenital stationary night blindness associated with a novel variant in the CACNA1F gene.
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| Title: | Incomplete congenital stationary night blindness associated with a novel variant in the CACNA1F gene. |
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| Authors: | Loo SP; Department of Ophthalmology, Royal Hospital for Children, NHS Greater Glasgow and Clyde, Glasgow, UK., Shipton C; Department of Ophthalmology, NHS Lanarkshire, Wishaw, UK., Hamilton M; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, NHS Greater Glasgow and Clyde, Glasgow, UK., Brown A; Department of Ophthalmology, NHS Lanarkshire, Wishaw, UK., Millar E; Department of Ophthalmology, Royal Hospital for Children, NHS Greater Glasgow and Clyde, Glasgow, UK., Malik I; Department of Medical Illustration, NHS Greater Glasgow and Clyde, Glasgow, UK., Craig M; Department of Medical Illustration, NHS Greater Glasgow and Clyde, Glasgow, UK., Hamilton R; Department of Clinical Physics and Bioengineering, Royal Hospital for Children, NHS Greater Glasgow and Clyde, Glasgow, UK. ruth.hamilton@glasgow.ac.uk.; College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK. ruth.hamilton@glasgow.ac.uk. |
| Source: | Documenta ophthalmologica. Advances in ophthalmology [Doc Ophthalmol] 2026 Jun; Vol. 152 (3), pp. 401-407. Date of Electronic Publication: 2025 Nov 07. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: Kluwer Country of Publication: Netherlands NLM ID: 0370667 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2622 (Electronic) Linking ISSN: 00124486 NLM ISO Abbreviation: Doc Ophthalmol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41201761 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Incomplete congenital stationary night blindness associated with a novel variant in the CACNA1F gene. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Loo+SP%22">Loo SP</searchLink>; Department of Ophthalmology, Royal Hospital for Children, NHS Greater Glasgow and Clyde, Glasgow, UK.<br /><searchLink fieldCode="AU" term="%22Shipton+C%22">Shipton C</searchLink>; Department of Ophthalmology, NHS Lanarkshire, Wishaw, UK.<br /><searchLink fieldCode="AU" term="%22Hamilton+M%22">Hamilton M</searchLink>; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, NHS Greater Glasgow and Clyde, Glasgow, UK.<br /><searchLink fieldCode="AU" term="%22Brown+A%22">Brown A</searchLink>; Department of Ophthalmology, NHS Lanarkshire, Wishaw, UK.<br /><searchLink fieldCode="AU" term="%22Millar+E%22">Millar E</searchLink>; Department of Ophthalmology, Royal Hospital for Children, NHS Greater Glasgow and Clyde, Glasgow, UK.<br /><searchLink fieldCode="AU" term="%22Malik+I%22">Malik I</searchLink>; Department of Medical Illustration, NHS Greater Glasgow and Clyde, Glasgow, UK.<br /><searchLink fieldCode="AU" term="%22Craig+M%22">Craig M</searchLink>; Department of Medical Illustration, NHS Greater Glasgow and Clyde, Glasgow, UK.<br /><searchLink fieldCode="AU" term="%22Hamilton+R%22">Hamilton R</searchLink>; Department of Clinical Physics and Bioengineering, Royal Hospital for Children, NHS Greater Glasgow and Clyde, Glasgow, UK. ruth.hamilton@glasgow.ac.uk.; College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK. ruth.hamilton@glasgow.ac.uk. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%220370667%22">Documenta ophthalmologica. Advances in ophthalmology</searchLink> [Doc Ophthalmol] 2026 Jun; Vol. 152 (3), pp. 401-407. <i>Date of Electronic Publication: </i>2025 Nov 07. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Case Reports – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Kluwer%22">Kluwer </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>0370667 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1573-2622 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200124486%22">00124486 </searchLink><i>NLM ISO Abbreviation: </i>Doc Ophthalmol <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41201761 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s10633-025-10062-x Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 401 Titles: – TitleFull: Incomplete congenital stationary night blindness associated with a novel variant in the CACNA1F gene. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Loo SP – PersonEntity: Name: NameFull: Shipton C – PersonEntity: Name: NameFull: Hamilton M – PersonEntity: Name: NameFull: Brown A – PersonEntity: Name: NameFull: Millar E – PersonEntity: Name: NameFull: Malik I – PersonEntity: Name: NameFull: Craig M – PersonEntity: Name: NameFull: Hamilton R IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 06 Text: 2026 Jun Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1573-2622 Numbering: – Type: volume Value: 152 – Type: issue Value: 3 Titles: – TitleFull: Documenta ophthalmologica. Advances in ophthalmology Type: main |
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