Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2021 May 1;30(5):e265-e268.
doi: 10.1097/IJG.0000000000001781.

Acute Angle Closure in Knobloch Syndrome

James Wawrzynski  1 , Jonathan Than  2 , Matthew Gillam  2 , Paul J Foster  3
Affiliations

Acute Angle Closure in Knobloch Syndrome

James Wawrzynski et al. J Glaucoma. .

Abstract

We report cases of acute angle closure in 2 young highly myopic siblings with Knobloch syndrome. To our knowledge, this is the first report of acute angle closure in Knobloch syndrome. Both patients were homozygous for a likely pathogenic variant in COL18A1. Both responded to treatment with cyclophotocoagulation and remained stable despite declining or being medically unfit for clear lens extraction. We argue that the recent implication of heterozygous mutations in COL18A1 in familial angle closure supports the argument that acute angle closure in these 2 patients was likely to be a thus far unreported feature of Knobloch syndrome. In addition, these cases also support the hypothesis that pathogenic variants in COL18A1 may be a risk factor for acute angle closure.

PubMed Disclaimer

Conflict of interest statement

Funding: Great Ormond Street Childrens’ Charity. Disclosure: The authors declare no conflict of interest.

References

    1. Alsbirk PH. Anterior chamber depth and primary angle-closure glaucoma. II. A genetic study. Acta Ophthalmol (Copenh). 1975;53:436–449.
    1. Devereux JG, Foster PJ, Baasanhu J, et al. Anterior chamber depth measurement as a screening tool for primary angle-closure glaucoma in an East Asian population. Arch Ophthalmol. 2000;118:257–263.
    1. Vajaranant TS, Thasarat S, Nayak S, et al. Gender and glaucoma: what we know and what we need to know. Curr Opin Ophthalmol. 2010;21:91–99.
    1. Hull S, Arno G, Ku CA, et al. Molecular and clinical findings in patients with Knobloch syndrome. JAMA Ophthalmol. 2016;134:753–762.
    1. Suri F, Yazdani S, Chapi M, et al. COL18A1 is a candidate eye iridocorneal angle-closure gene in humans. Hum Mol Genet. 2018;27:3772–3786.

Publication types

Supplementary concepts