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Acute Angle Closure in Knobloch Syndrome.
James Wawrzynski1, Jonathan Than2, Matthew Gillam2
1Moorfields Eye Hospital, NIHR Great Ormond Street Hospital Biomedical Research Centre, and University College London Institute of Child Health.
Journal of Glaucoma
|January 15, 2021
Summary
Acute angle closure, a rare complication, was observed in two siblings with Knobloch syndrome. Pathogenic variants in COL18A1 may be a risk factor for this condition.
Area of Science:
- Ophthalmology
- Genetics
Background:
- Knobloch syndrome is a rare genetic disorder.
- Acute angle closure is a severe form of glaucoma.
Purpose of the Study:
- To report the first cases of acute angle closure in patients with Knobloch syndrome.
- To investigate the potential role of COL18A1 gene variants in this presentation.
Main Methods:
- Case report of two siblings with Knobloch syndrome and acute angle closure.
- Genetic analysis to identify variants in the COL18A1 gene.
- Clinical follow-up and treatment response assessment.
Main Results:
- Both patients presented with acute angle closure and were highly myopic.
- Both were homozygous for a likely pathogenic variant in COL18A1.
- Successful management with cyclophotocoagulation was achieved.
- COL18A1 variants are implicated in familial angle closure.
Conclusions:
- Acute angle closure may be an unreported feature of Knobloch syndrome.
- Pathogenic variants in COL18A1 are potentially associated with acute angle closure.
- Cyclophotocoagulation can be an effective treatment modality.
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