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

Katherine Granger, Catherine Do, Catherine Quindipan, Ryan Schmidt, Mark S Borchert, Aaron Nagiel, Melinda Y Chang

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Article in Frontiers in neurology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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7 authors.

Katherine GrangerDepartment of Surgery, Vision Center, Children's Hospital Los Angeles, Los Angeles, CA, United States.

Catherine DoDepartment of Ophthalmology, Roski Eye Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States.

Catherine QuindipanDepartment of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, United States.

Ryan SchmidtDepartment of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, United States.

Mark S BorchertDepartment of Surgery, Vision Center, Children's Hospital Los Angeles, Los Angeles, CA, United States.

Aaron NagielDepartment of Surgery, Vision Center, Children's Hospital Los Angeles, Los Angeles, CA, United States.

Melinda Y ChangDepartment of Surgery, Vision Center, Children's Hospital Los Angeles, Los Angeles, CA, United States.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Clinical findings: Both siblings presented with early-onset severe visual impairment, bilateral optic atrophy, central macular atrophy, sensory nystagmus, and strabismus in the setting of global developmental delay. Additional features included polymicrogyria and hypotonia (Case 1) and microcephaly and autism spectrum disorder (Case 2). Diagnoses and outcomes: After repeated non-diagnostic inherited retinal gene panels, clinical quad WGS identified compound heterozygous variants in Conclusion: These cases expand the phenotypic spectrum of COG5-CDG to include concurrent optic nerve and macular involvement with neurodevelopmental impairment and highlight the essential role of WGS in diagnosing complex neuro-ophthalmologic presentations when targeted genetic testing is nondiagnostic.

Indexed as

case reportcongenital disorders of glycosylationdevelopmental delayoptic atrophyretinal dystrophy

Identifiers

PMID42306617

DOI10.3389/fneur.2026.1840802

PMCPMC13265530

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