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Oliver McFarlane syndrome and choroidal neovascularisation: a case report

Makuloluwa, AK; Dodeja, R; Georgiou, M; Gonzalez-Martin, J; Hagan, R; Madhusudhan, S; Michaelides, M; (2020) Oliver McFarlane syndrome and choroidal neovascularisation: a case report. Ophthalmic Genetics , 41 (5) pp. 451-456. 10.1080/13816810.2020.1783689. Green open access

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Abstract

Background: Oliver McFarlane syndrome (OMS) is a rare autosomal recessive disorder characterised by pigmentary chorioretinal atrophy with no previous reports of choroidal neovascularisation (CNV). / Material and Methods: We describe the history, findings of clinical examination, retinal imaging and electrodiagnostic studies, and the treatment of a patient with CNV secondary to OMS. / Case Description: CNV secondary to OMS was diagnosed in a ten-year-old white female who presented with reduced visual acuity and a macular haemorrhage in her right eye. CNV was confirmed on optical coherence tomography. She was initially treated with a single injection of intravitreal bevacizumab and 2 years later with an injection of intravitreal ranibizumab for a recurrence. Although macular scarring secondary to the CNV was observed, her vision has stabilised and she continues to be closely monitored. / Conclusion: We report the first case of CNV secondary to OMS and its successful treatment with intravitreal anti-vascular endothelial growth factor injections.

Type: Article
Title: Oliver McFarlane syndrome and choroidal neovascularisation: a case report
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1080/13816810.2020.1783689
Publisher version: https://doi.org/10.1080/13816810.2020.1783689
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.
Keywords: CNV, Oliver McFarlane syndrome, PNPLA6, choroidal neovascularisation, congenital trichomegaly
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
URI: https://discovery.ucl.ac.uk/id/eprint/10104700
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