COG5-congenital disorder of glycosylation diagnosed by whole genome sequencing in siblings with unexplained optic atrophy, macular atrophy, and developmental delay: case report - Summary - MDSpire
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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
To report two siblings with COG5-CDG presenting with optic atrophy, macular atrophy, and neurodevelopmental delay, diagnosed through whole genome sequencing after initial non-diagnostic testing, emphasizing the role of WGS in complex cases.
Key Findings:
Siblings presented with early-onset severe visual impairment and developmental delays, highlighting the novel combination of symptoms.
Compound heterozygous variants in COG5 were identified through whole genome sequencing after other tests were non-diagnostic.
Visual function remained stable over 5 years of follow-up, indicating potential for long-term management.
Interpretation:
These cases expand the phenotypic spectrum of COG5-CDG to include optic nerve and macular involvement with neurodevelopmental impairment, underscoring the essential role of WGS in diagnosis.
Limitations:
The study is based on a small number of cases (two siblings).
Long-term outcomes beyond 5 years are not reported, limiting understanding of prognosis.
Conclusion:
Whole genome sequencing is crucial for diagnosing complex neuro-ophthalmologic presentations when targeted genetic testing fails.
