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.
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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 |
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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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