UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

Acute Angle Closure in Knobloch Syndrome

Wawrzynski, J; Than, J; Gillam, M; Foster, PJ; (2021) Acute Angle Closure in Knobloch Syndrome. Journal of Glaucoma , 30 (5) e265-e268. 10.1097/IJG.0000000000001781. Green open access

[thumbnail of Acute_Angle_Closure_in_Knobloch_Syndrome.97658.pdf]
Preview
Text
Acute_Angle_Closure_in_Knobloch_Syndrome.97658.pdf - Accepted Version

Download (1MB) | Preview

Abstract

We report cases of acute angle closure in two 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 two 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.

Type: Article
Title: Acute Angle Closure in Knobloch Syndrome
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1097/IJG.0000000000001781
Publisher version: https://doi.org/10.1097/IJG.0000000000001781
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Biology and Cancer Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10119530
Downloads since deposit
32Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item