Nicole M Fuerst1, Leona Serrano1, Grace Han1, Jessica I W Morgan1, Albert M Maguire1,2, Bart P Leroy2,3,4, Benjamin J Kim1, Tomas S Aleman1,2. 1. a Scheie Eye Institute and Perelman Center for Advanced Medicine, University of Pennsylvania , Philadelphia , Pennsylvania , USA. 2. b Division of Ophthalmology, Children's Hospital of Philadelphia, and Department of Ophthalmology , University of Pennsylvania , Philadelphia , Pennsylvania , USA. 3. c Center for Cellular & Molecular Therapeutics, Children's Hospital of Philadelphia , Philadelphia , Pennsylvania , USA. 4. d Department of Ophthalmology and the Center for Medical Genetics, Ghent University and Ghent University Hospital , Ghent , Belgium.
Abstract
PURPOSE: To describe in detail the phenotype of a patient with Bietti crystalline dystrophy (BCD) complicated by choroidal neovascularization (CNV) and the response to intravitreal Bevacizumab (Avastin®; Genentech/Roche). METHODS: A 34-year-old woman with BCD and mutations in CYP4V2 (c.802-8_806del13/p.H331P:c992A>C) underwent a complete ophthalmic examination, full-field flash electroretinography (ERG), kinetic and two-color dark-adapted perimetry, and dark-adaptometry. Imaging was performed with spectral domain optical coherence tomography (SD-OCT), near infrared (NIR) and short wavelength (SW) fundus autofluorescence (FAF), and fluorescein angiography (FA). RESULTS: Best-corrected visual acuity (BCVA) was 20/20 and 20/60 for the right and left eye, respectively. There were corneal paralimbal crystal-like deposits. Kinetic fields were normal in the peripheral extent. Retinal crystals were most obvious on NIR-reflectance and corresponded with hyperreflectivities within the RPE on SD-OCT. There was parafoveal/perifoveal hypofluorescence on SW-FAF and NIR-FAF. Rod > cone sensitivity loss surrounded fixation and extended to ~10° of eccentricity corresponding to regions of photoreceptor outer segment-retinal pigmented epithelium (RPE) interdigitation abnormalities. The outer nuclear layer was normal in thickness. Recovery of sensitivity following a ~76% rhodopsin bleach was normal. ERGs were normal. A subretinal hemorrhage in the left eye co-localized with elevation of the RPE on SD-OCT and leakage on FA, suggestive of CNV. Three monthly intravitreal injections of Bevacizumab led to restoration of BCVA to baseline (20/25). CONCLUSION: crystals in BCD were predominantly located within the RPE. Photoreceptor outer segment and apical RPE abnormalities underlie the relatively extensive retinal dysfunction observed in relatively early-stage BCD. Intravitreal Bevacizumab was effective in treating CNV in this setting.
PURPOSE: To describe in detail the phenotype of a patient with Bietti crystalline dystrophy (BCD) complicated by choroidal neovascularization (CNV) and the response to intravitreal Bevacizumab (Avastin®; Genentech/Roche). METHODS: A 34-year-old woman with BCD and mutations in CYP4V2 (c.802-8_806del13/p.H331P:c992A>C) underwent a complete ophthalmic examination, full-field flash electroretinography (ERG), kinetic and two-color dark-adapted perimetry, and dark-adaptometry. Imaging was performed with spectral domain optical coherence tomography (SD-OCT), near infrared (NIR) and short wavelength (SW) fundus autofluorescence (FAF), and fluorescein angiography (FA). RESULTS: Best-corrected visual acuity (BCVA) was 20/20 and 20/60 for the right and left eye, respectively. There were corneal paralimbal crystal-like deposits. Kinetic fields were normal in the peripheral extent. Retinal crystals were most obvious on NIR-reflectance and corresponded with hyperreflectivities within the RPE on SD-OCT. There was parafoveal/perifoveal hypofluorescence on SW-FAF and NIR-FAF. Rod > cone sensitivity loss surrounded fixation and extended to ~10° of eccentricity corresponding to regions of photoreceptor outer segment-retinal pigmented epithelium (RPE) interdigitation abnormalities. The outer nuclear layer was normal in thickness. Recovery of sensitivity following a ~76% rhodopsin bleach was normal. ERGs were normal. A subretinal hemorrhage in the left eye co-localized with elevation of the RPE on SD-OCT and leakage on FA, suggestive of CNV. Three monthly intravitreal injections of Bevacizumab led to restoration of BCVA to baseline (20/25). CONCLUSION: crystals in BCD were predominantly located within the RPE. Photoreceptor outer segment and apical RPE abnormalities underlie the relatively extensive retinal dysfunction observed in relatively early-stage BCD. Intravitreal Bevacizumab was effective in treating CNV in this setting.
Authors: Anren Li; Xiaodong Jiao; Francis L Munier; Daniel F Schorderet; Wenliang Yao; Fumino Iwata; Mutsuko Hayakawa; Atsushi Kanai; Muh Shy Chen; Richard Alan Lewis; John Heckenlively; Richard G Weleber; Elias I Traboulsi; Qingjiong Zhang; Xueshan Xiao; Muriel Kaiser-Kupfer; Yuri V Sergeev; J Fielding Hejtmancik Journal: Am J Hum Genet Date: 2004-03-23 Impact factor: 11.025
Authors: Xiao Hong Meng; Hong Guo; Hai Wei Xu; Qi You Li; Xin Jin; Yun Bai; Shi Ying Li; Zheng Qin Yin Journal: Mol Vis Date: 2014-12-31 Impact factor: 2.367
Authors: Samuel G Jacobson; Artur V Cideciyan; Alexander Sumaroka; Alejandro J Roman; Alan F Wright Journal: JAMA Ophthalmol Date: 2014-10 Impact factor: 7.389
Authors: Tomas S Aleman; Grace Han; Leona W Serrano; Nicole M Fuerst; Emily S Charlson; Denise J Pearson; Daniel C Chung; Anastasia Traband; Wei Pan; Gui-Shuang Ying; Jean Bennett; Albert M Maguire; Jessica I W Morgan Journal: Ophthalmology Date: 2016-12-13 Impact factor: 12.079
Authors: Akosua A Nti; Leona W Serrano; Harpal S Sandhu; Katherine E Uyhazi; Ilaina D Edelstein; Elaine J Zhou; Scott Bowman; Delu Song; Tara C Gangadhar; Lynn M Schuchter; Sheryl Mitnick; Alexander Huang; Charles W Nichols; Ravi K Amaravadi; Benjamin J Kim; Tomas S Aleman Journal: Retina Date: 2019-03 Impact factor: 4.256