PMID- 27986385 OWN - NLM STAT- MEDLINE DCOM- 20170707 LR - 20220408 IS - 1549-4713 (Electronic) IS - 0161-6420 (Print) IS - 0161-6420 (Linking) VI - 124 IP - 3 DP - 2017 Mar TI - Natural History of the Central Structural Abnormalities in Choroideremia: A Prospective Cross-Sectional Study. PG - 359-373 LID - S0161-6420(16)30907-1 [pii] LID - 10.1016/j.ophtha.2016.10.022 [doi] AB - PURPOSE: To describe in detail the central retinal structure of a large group of patients with choroideremia (CHM). DESIGN: A prospective, cross-sectional, descriptive study. PARTICIPANTS: Patients (n = 97, age 6-71 years) with CHM and subjects with normal vision (n = 44; ages 10-50 years) were included. METHODS: Subjects were examined with spectral-domain optical coherence tomography (SD OCT) and near-infrared reflectance imaging. Visual acuity (VA) was measured during their encounter or obtained from recent ophthalmic examinations. Visual thresholds were measured in a subset of patients (n = 24) with automated static perimetry within the central regions (+/-15 degrees ) examined with SD OCT. MAIN OUTCOME MEASURES: Visual acuity and visual thresholds; total nuclear layer, inner nuclear layer (INL), and outer nuclear layer (ONL) thicknesses; and horizontal extent of the ONL and the photoreceptor outer segment (POS) interdigitation zone (IZ). RESULTS: Earliest abnormalities in regions with normally appearing retinal pigment epithelium (RPE) were the loss of the POS and ellipsoid zone associated with rod dysfunction. Transition zones (TZs) from relatively preserved retina to severe ONL thinning and inner retinal thickening moved centripetally with age. Most patients (88%) retained VAs better than 20/40 until their fifth decade of life. The VA decline coincided with migration of the TZ near the foveal center. There were outer retinal tubulations in degenerated, nonatrophic retina in the majority (69%) of patients. In general, RPE abnormalities paralleled photoreceptor degeneration, although there were regions with detectable but abnormally thin ONL co-localizing with severe RPE depigmentation and choroidal thinning. CONCLUSIONS: Abnormalities of the POS and rod dysfunction are the earliest central abnormalities observed in CHM. Foveal function is relatively preserved until the fifth decade of life. Migration of the TZs to the foveal center with foveal thinning and structural disorganization heralded central VA loss. The relationships established may help outline the eligibility criteria and outcome measures for clinical trials for CHM. CI - Copyright (c) 2016 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved. FAU - Aleman, Tomas S AU - Aleman TS AD - Scheie Eye Institute, Perelman School of Medicine, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania. Electronic address: aleman@mail.med.upenn.edu. FAU - Han, Grace AU - Han G AD - Scheie Eye Institute, Perelman School of Medicine, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania. FAU - Serrano, Leona W AU - Serrano LW AD - Scheie Eye Institute, Perelman School of Medicine, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania. FAU - Fuerst, Nicole M AU - Fuerst NM AD - Scheie Eye Institute, Perelman School of Medicine, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania. FAU - Charlson, Emily S AU - Charlson ES AD - Scheie Eye Institute, Perelman School of Medicine, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania. FAU - Pearson, Denise J AU - Pearson DJ AD - Scheie Eye Institute, Perelman School of Medicine, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania. FAU - Chung, Daniel C AU - Chung DC AD - Scheie Eye Institute, Perelman School of Medicine, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania. FAU - Traband, Anastasia AU - Traband A AD - Scheie Eye Institute, Perelman School of Medicine, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania. FAU - Pan, Wei AU - Pan W AD - Scheie Eye Institute, Perelman School of Medicine, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania. FAU - Ying, Gui-Shuang AU - Ying GS AD - Scheie Eye Institute, Perelman School of Medicine, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania. FAU - Bennett, Jean AU - Bennett J AD - Scheie Eye Institute, Perelman School of Medicine, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania. FAU - Maguire, Albert M AU - Maguire AM AD - Scheie Eye Institute, Perelman School of Medicine, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania. FAU - Morgan, Jessica I W AU - Morgan JI AD - Scheie Eye Institute, Perelman School of Medicine, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania. LA - eng GR - K12 EY015398/EY/NEI NIH HHS/United States GR - P30 EY001583/EY/NEI NIH HHS/United States GR - U01 EY025477/EY/NEI NIH HHS/United States PT - Journal Article DEP - 20161213 PL - United States TA - Ophthalmology JT - Ophthalmology JID - 7802443 SB - IM MH - Adolescent MH - Adult MH - Aged MH - Child MH - Choroideremia/*diagnosis/diagnostic imaging MH - Cross-Sectional Studies MH - Humans MH - Middle Aged MH - Prospective Studies MH - Retinal Neurons/*pathology MH - Retinal Pigment Epithelium/diagnostic imaging/*pathology MH - Tomography, Optical Coherence MH - Visual Acuity/physiology MH - Visual Fields/physiology PMC - PMC5319901 MID - NIHMS827289 EDAT- 2016/12/18 06:00 MHDA- 2017/07/08 06:00 PMCR- 2018/03/01 CRDT- 2016/12/18 06:00 PHST- 2016/08/17 00:00 [received] PHST- 2016/10/17 00:00 [revised] PHST- 2016/10/24 00:00 [accepted] PHST- 2016/12/18 06:00 [pubmed] PHST- 2017/07/08 06:00 [medline] PHST- 2016/12/18 06:00 [entrez] PHST- 2018/03/01 00:00 [pmc-release] AID - S0161-6420(16)30907-1 [pii] AID - 10.1016/j.ophtha.2016.10.022 [doi] PST - ppublish SO - Ophthalmology. 2017 Mar;124(3):359-373. doi: 10.1016/j.ophtha.2016.10.022. Epub 2016 Dec 13.