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COG5-congenital disorder of glycosylation diagnosed by whole genome sequencing in siblings with unexplained optic atrophy, macular atrophy, and developmental delay: case report.

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Title: COG5-congenital disorder of glycosylation diagnosed by whole genome sequencing in siblings with unexplained optic atrophy, macular atrophy, and developmental delay: case report.
Authors: Granger K; Department of Surgery, Vision Center, Children's Hospital Los Angeles, Los Angeles, CA, United States., Do C; Department of Ophthalmology, Roski Eye Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States., Quindipan C; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, United States., Schmidt R; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, United States.; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States., Borchert MS; Department of Surgery, Vision Center, Children's Hospital Los Angeles, Los Angeles, CA, United States.; Department of Ophthalmology, Roski Eye Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States., Nagiel A; Department of Surgery, Vision Center, Children's Hospital Los Angeles, Los Angeles, CA, United States.; Department of Ophthalmology, Roski Eye Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States., Chang MY; Department of Surgery, Vision Center, Children's Hospital Los Angeles, Los Angeles, CA, United States.; Department of Ophthalmology, Roski Eye Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States.
Source: Frontiers in neurology [Front Neurol] 2026 Jun 01; Vol. 17, pp. 1840802. Date of Electronic Publication: 2026 Jun 01 (Print Publication: 2026).
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: COG5-congenital disorder of glycosylation diagnosed by whole genome sequencing in siblings with unexplained optic atrophy, macular atrophy, and developmental delay: case report.
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  Data: <searchLink fieldCode="AU" term="%22Granger+K%22">Granger K</searchLink>; Department of Surgery, Vision Center, Children's Hospital Los Angeles, Los Angeles, CA, United States.<br /><searchLink fieldCode="AU" term="%22Do+C%22">Do C</searchLink>; Department of Ophthalmology, Roski Eye Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States.<br /><searchLink fieldCode="AU" term="%22Quindipan+C%22">Quindipan C</searchLink>; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, United States.<br /><searchLink fieldCode="AU" term="%22Schmidt+R%22">Schmidt R</searchLink>; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, United States.; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States.<br /><searchLink fieldCode="AU" term="%22Borchert+MS%22">Borchert MS</searchLink>; Department of Surgery, Vision Center, Children's Hospital Los Angeles, Los Angeles, CA, United States.; Department of Ophthalmology, Roski Eye Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States.<br /><searchLink fieldCode="AU" term="%22Nagiel+A%22">Nagiel A</searchLink>; Department of Surgery, Vision Center, Children's Hospital Los Angeles, Los Angeles, CA, United States.; Department of Ophthalmology, Roski Eye Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States.<br /><searchLink fieldCode="AU" term="%22Chang+MY%22">Chang MY</searchLink>; Department of Surgery, Vision Center, Children's Hospital Los Angeles, Los Angeles, CA, United States.; Department of Ophthalmology, Roski Eye Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Research+Foundation%22">Frontiers Research Foundation </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101546899 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>1664-2295 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216642295%22">16642295 </searchLink><i>NLM ISO Abbreviation: </i>Front Neurol <i>Subsets: </i>PubMed not MEDLINE
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        Value: 10.3389/fneur.2026.1840802
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        Text: English
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      – TitleFull: COG5-congenital disorder of glycosylation diagnosed by whole genome sequencing in siblings with unexplained optic atrophy, macular atrophy, and developmental delay: case report.
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              Text: 2026 Jun 01
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