Novel heterozygous UCHL1 variant causing severe optic atrophy and vision loss.
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| Title: | Novel heterozygous UCHL1 variant causing severe optic atrophy and vision loss. |
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| Authors: | Lee NS; Department of Ophthalmology, Sydney Hospital and Sydney Eye Hospital, Sydney, Australia., Fraser CL; Department of Ophthalmology, Sydney Hospital and Sydney Eye Hospital, Sydney, Australia.; Save Sight Institute, Faculty of Medicine and Health, University of Sydney, Sydney, Australia., Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia., Ahmad K; Department of Neurology, Royal North Shore Hospital, Sydney, Australia. |
| Source: | Ophthalmic genetics [Ophthalmic Genet] 2026 Apr 09, pp. 1-4. Date of Electronic Publication: 2026 Apr 09. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41958053 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Novel heterozygous UCHL1 variant causing severe optic atrophy and vision loss. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Lee+NS%22">Lee NS</searchLink>; Department of Ophthalmology, Sydney Hospital and Sydney Eye Hospital, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Fraser+CL%22">Fraser CL</searchLink>; Department of Ophthalmology, Sydney Hospital and Sydney Eye Hospital, Sydney, Australia.; Save Sight Institute, Faculty of Medicine and Health, University of Sydney, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Stark+Z%22">Stark Z</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Ahmad+K%22">Ahmad K</searchLink>; Department of Neurology, Royal North Shore Hospital, Sydney, Australia. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229436057%22">Ophthalmic genetics</searchLink> [Ophthalmic Genet] 2026 Apr 09, pp. 1-4. <i>Date of Electronic Publication: </i>2026 Apr 09. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Informa+Healthcare%22">Informa Healthcare </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9436057 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1744-5094 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2213816810%22">13816810 </searchLink><i>NLM ISO Abbreviation: </i>Ophthalmic Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41958053 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1080/13816810.2026.2655887 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1 Titles: – TitleFull: Novel heterozygous UCHL1 variant causing severe optic atrophy and vision loss. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Lee NS – PersonEntity: Name: NameFull: Fraser CL – PersonEntity: Name: NameFull: Stark Z – PersonEntity: Name: NameFull: Ahmad K IsPartOfRelationships: – BibEntity: Dates: – D: 09 M: 04 Text: 2026 Apr 09 Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1744-5094 Titles: – TitleFull: Ophthalmic genetics Type: main |
| ResultId | 1 |
