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

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

  • By

  • Katherine Granger

  • Catherine Do

  • Catherine Quindipan

  • Ryan Schmidt

  • Mark S. Borchert

  • Aaron Nagiel

  • Melinda Y. Chang

  • June 1, 2026

  • 0 min

Share

  • 1

    COG5-CDG is a rare autosomal recessive disorder characterized by neurologic and ophthalmologic symptoms, including optic and macular atrophy.

  • 2

    Two siblings with COG5-CDG exhibited severe visual impairment, developmental delays, and additional neurological features not previously reported together.

  • 3

    Whole genome sequencing (WGS) identified compound heterozygous variants in COG5 after initial exome testing failed to provide a diagnosis.

  • 4

    The siblings' clinical features included bilateral optic atrophy, macular atrophy, nystagmus, and developmental delays, expanding the known phenotype of COG5-CDG.

  • 5

    These cases highlight the importance of WGS in diagnosing complex neuro-ophthalmologic conditions when targeted genetic testing is inconclusive.

Original Source(s)

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

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

  • June 1, 2026

Related Content

Gene Therapy Reaches XLRS Milestone

Atsena Therapeutics reports positive interim data for XLRS gene therapy

  • May 25, 2026

  • 3 min
FDA Monthly Preview: Key June Decisions to Watch

Several FDA decisions across multiple specialties are expected this month.

EYP-1901 for Retinal Exudative Diseases

Updates from the clinical trial program in Wet AMD and DME