Aruni Kumari Makuloluwa1, Rutika Dodeja1,2, Michalis Georgiou3,4, Jose Gonzalez-Martin2, Richard Hagan5, Savita Madhusudhan1, Michel Michaelides3,4. 1. St. Paul's Eye Unit, Royal Liverpool University Hospital , Liverpool, UK. 2. Department of Ophthalmology, Alder Hey Children's Hospital , Liverpool, UK. 3. Moorfields Eye Hospital , London, UK. 4. UCL Institute of Ophthalmology, University College London , London, UK. 5. Department of Electrophysiology, Royal Liverpool University Hospital , Liverpool, UK.
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.
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.
Entities:
Keywords:
CNV; Oliver McFarlane syndrome; PNPLA6; choroidal neovascularisation; congenital trichomegaly
Authors: Pavel A Melentev; Eduard G Sharapenkov; Nina V Surina; Ekaterina A Ivanova; Elena V Ryabova; Svetlana V Sarantseva Journal: Insects Date: 2021-12-22 Impact factor: 2.769