D Damla Sevgi1,2, Samaneh Davoudi1, Jason Comander1, Lucia Sobrin3. 1. Massachusetts Eye and Ear Infirmary, Harvard Medical School, 243 Charles Street, Boston, MA, 02114, USA. 2. School of Medicine, Koc University, Istanbul, Turkey. 3. Massachusetts Eye and Ear Infirmary, Harvard Medical School, 243 Charles Street, Boston, MA, 02114, USA. Lucia_Sobrin@meei.harvard.edu.
Abstract
PURPOSE: To present retinal pigmentary changes mimicking retinitis pigmentosa (RP) as a finding of advanced uveitis. METHODS: We retrospectively reviewed charts of patients without a family history of inherited retinal degenerations who presented with retinal pigment changes and signs of past or present intraocular inflammation. Comprehensive eye examination including best-corrected visual acuity, slit-lamp examination and dilated fundus examination was performed on all patients in addition to color fundus photography, optical coherence tomography, fluorescein angiography (FA), and full-field electroretinogram testing. RESULTS: We identified five patients with ages ranging from 33 to 66 years, who presented with RP-like retinal pigmentary changes which were eventually attributed to longstanding uveitis. The changes were bilateral in three cases and unilateral in two cases. Four of five cases presented with active inflammation, and the remaining case showed evidence of active intraocular inflammation during follow-up. CONCLUSION: This study highlights the overlapping features of advanced uveitis and RP including the extensive pigmentary changes. Careful review of possible past uveitis history, detailed examination of signs of past or present inflammation and ancillary testing, with FA often being most helpful, are required for the correct diagnosis. This is important, because intervention can prevent further damage if the cause of the pigmentary changes is destructive inflammation.
PURPOSE: To present retinal pigmentary changes mimicking retinitis pigmentosa (RP) as a finding of advanced uveitis. METHODS: We retrospectively reviewed charts of patients without a family history of inherited retinal degenerations who presented with retinal pigment changes and signs of past or present intraocular inflammation. Comprehensive eye examination including best-corrected visual acuity, slit-lamp examination and dilated fundus examination was performed on all patients in addition to color fundus photography, optical coherence tomography, fluorescein angiography (FA), and full-field electroretinogram testing. RESULTS: We identified five patients with ages ranging from 33 to 66 years, who presented with RP-like retinal pigmentary changes which were eventually attributed to longstanding uveitis. The changes were bilateral in three cases and unilateral in two cases. Four of five cases presented with active inflammation, and the remaining case showed evidence of active intraocular inflammation during follow-up. CONCLUSION: This study highlights the overlapping features of advanced uveitis and RP including the extensive pigmentary changes. Careful review of possible past uveitis history, detailed examination of signs of past or present inflammation and ancillary testing, with FA often being most helpful, are required for the correct diagnosis. This is important, because intervention can prevent further damage if the cause of the pigmentary changes is destructive inflammation.
Authors: Mark B Consugar; Daniel Navarro-Gomez; Emily M Place; Kinga M Bujakowska; Maria E Sousa; Zoë D Fonseca-Kelly; Daniel G Taub; Maria Janessian; Dan Yi Wang; Elizabeth D Au; Katherine B Sims; David A Sweetser; Anne B Fulton; Qin Liu; Janey L Wiggs; Xiaowu Gai; Eric A Pierce Journal: Genet Med Date: 2014-11-20 Impact factor: 8.822
Authors: Kirk A J Stephenson; Julia Zhu; Adrian Dockery; Laura Whelan; Tomás Burke; Jacqueline Turner; James J O'Byrne; G Jane Farrar; David J Keegan Journal: Int J Mol Sci Date: 2022-01-17 Impact factor: 5.923