REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA. Retina 2017 Oct;37(10):1956-1966
Date
02/02/2017Pubmed ID
28145975Pubmed Central ID
PMC5537050DOI
10.1097/IAE.0000000000001434Scopus ID
2-s2.0-85011301749 (requires institutional sign-in at Scopus site) 44 CitationsAbstract
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 μm/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.
Author List
Langlo CS, Erker LR, Parker M, Patterson EJ, Higgins BP, Summerfelt P, Razeen MM, Collison FT, Fishman GA, Kay CN, Zhang J, Weleber RG, Yang P, Pennesi ME, Lam BL, Chulay JD, Dubra A, Hauswirth WW, Wilson DJ, Carroll J, ACHM-001 study groupAuthor
Joseph J. Carroll PhD Director, Professor in the Ophthalmology and Visual Sciences department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdolescentAdult
Child
Color Vision Defects
Cyclic Nucleotide-Gated Cation Channels
DNA
DNA Mutational Analysis
Electroretinography
Female
Fovea Centralis
Humans
Longitudinal Studies
Male
Mutation
Ophthalmoscopy
Retinal Cone Photoreceptor Cells
Tomography, Optical Coherence
Visual Acuity
Young Adult