@article{4341dd4f987443fe940d40795154ace8,
title = "Repeatability and longitudinal assessment of foveal cone structure in CNGB3 -Associated achromatopsia",
abstract = "Purpose: Congenital achromatopsia is an autosomal recessive disease causing substantial reduction or complete absence of cone function. Although believed to be a relatively stationary disorder, questions remain regarding the stability of cone structure over time. In this study, the authors sought to assess the repeatability of and examine longitudinal changes in measurements of central cone structure in patients with achromatopsia. Methods: Forty-one subjects with CNGB3-associated achromatopsia were imaged over a period of between 6 and 26 months using optical coherence tomography and adaptive optics scanning light ophthalmoscopy. Outer nuclear layer (ONL) thickness, ellipsoid zone (EZ) disruption, and peak foveal cone density were assessed. Results: ONL thickness increased slightly compared with baseline (0.184 m/month, P = 0.02). The EZ grade remained unchanged for 34/41 subjects. Peak foveal cone density did not significantly change over time (mean change 1% per 6 months, P = 0.126). Conclusion: Foveal cone structure showed little or no change in this group of subjects with CNGB3-associated achromatopsia. Over the time scales investigated (6-26 months), achromatopsia seems to be a structurally stable condition, although longer-term follow-up is needed. These data will be useful in assessing foveal cone structure after therapeutic intervention.",
keywords = "achromatopsia, adaptive optics, color vision, cone photoreceptor, gene therapy, imaging, retinal degeneration",
author = "Langlo, {Christopher S.} and Erker, {Laura R.} and Maria Parker and Patterson, {Emily J.} and Higgins, {Brian P.} and Phyllis Summerfelt and Razeen, {Moataz M.} and Collison, {Frederick T.} and Fishman, {Gerald A.} and Kay, {Christine N.} and Jing Zhang and Weleber, {Richard G.} and Paul Yang and Pennesi, {Mark E.} and Lam, {Byron L.} and Chulay, {Jeffrey D.} and Alfredo Dubra and Hauswirth, {William W.} and Wilson, {David J.} and Joseph Carroll",
note = "Funding Information: Supported in part by the National Center for Research Resources and the National Center for Advancing Translational Sciences of the National Institutes of Health (NIH) under award number UL1TR000055, by the National Eye Institute of the NIH under award numbers R01EY017607, P30EY001931, P30EY021721, P30EY010572 (OHSU), R24EY022023, U01EY025477, K08EY021186 (M.E.P.), K08EY026650, and T32EY014537, and by the National Institute of General Medical Sciences of the NIH under award number T32GM080202. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH. Additional support was provided by Foundation Fighting Blindness under award numbers CDNMT07140648OHSU (P.Y.), CDNMT09140659OHSU (M.E.P.), CCL07110534OHSU01 (CEI), Unrestricted departmental support from Research to Prevent Blindness. Macula Vision Research Foundation, AGTC, C.M. Overstreet Retinal Eye Disease Research Fund, AchromaCorp and the Pangere Family Foundation. This investigation was conducted in part in a facility constructed with support from a Research Facilities Improvement Program, Grant number C06RR016511 from the National Center for Research Resources, NIH. Funding Information: C. S. Langlo has received an honorarium and travel reimbursement from AGTC. G. A. Fishman receives research support from AGTC and is a consultant for Spark. C. N. Kay receives research support from Foundation Fighting Blindness and AGTC and is a consultant for AGTC and Second Sight. R. G. Weleber receives research support from AGTC, Sanofi, and Foundation Fighting Blindness and serves on the advisory boards for AGTC and Foundation Fighting Blindness. P. Yang receives research support from AGTC. M. E. Pennesi receives research support from AGTC and Sanofi and is a consultant for Spark, Editas, ProQR Therapeutics, Ionis Pharmaceuticals, and AGTC. B. L. Lam receives research support from AGTC and Ocata and is a consultant for AGTC, Spark, Shire, and Ionis Pharmaceutical. J. D. Chulay is an employee of and holds shares in AGTC. A. Dubra is a consultant for Meira GTx, and holds a related US Patent (8,226,236). W. W. Hauswirth, receives research support from, is a consultant for, and holds shares of AGTC. D. J. Wilson receives research support from AGTC. J. Carroll receives research support from AGTC and OptoVue and is a consultant for Meira GTx. The remaining authors have no financial/conflicting interests to disclose. Funding Information: Supported in part by the National Center for Research Resources and the National Center for Advancing Translational Sciences of the National Institutes of Health (NIH) under award number UL1TR000055, by the National Eye Institute of the NIH under award numbers R01EY017607, P30EY001931, P30EY021721, P30EY010572 (OHSU), R24EY022023, U01EY025477, K08EY021186 (M.E.P.), K08EY026650, and T32EY014537, and by the National Institute of General Medical Sciences of the NIH under award number T32GM080202. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH. Additional support was provided by Foundation Fighting Blindness under award numbers CDNMT07140648OHSU (P.Y.), CDNMT09140659OHSU (M.E.P.), CCL07110534OHSU01 (CEI), Unrestricted departmental support from Research to Prevent Blindness. Macula Vision Research Foundation, AGTC, C.M. Overstreet Retinal Eye Disease Research Fund, Achro-maCorp and the Pangere Family Foundation. This investigation was conducted in part in a facility constructed with support from a Research Facilities Improvement Program, Grant number C06RR016511 from the National Center for Research Resources, NIH. Publisher Copyright: {\textcopyright} Copyright 2017 Ophthalmic Communication Soceity, Inc.",
year = "2017",
month = oct,
day = "1",
doi = "10.1097/IAE.0000000000001434",
language = "English (US)",
volume = "37",
pages = "1956--1966",
journal = "Retina",
issn = "0275-004X",
publisher = "Lippincott Williams and Wilkins",
number = "10",
}