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Retina. 2017 Oct;37(10):1956-1966. doi: 10.1097/IAE.0000000000001434.

REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA.

Author information

1
*Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, Wisconsin; †Casey Eye Institute, Oregon Health & Science University, Portland, Oregon; ‡Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, Wisconsin; §Alexandria Faculty of Medicine, University of Alexandria, Alexandria, Egypt; ¶Pangere Center for Inherited Retinal Diseases, The Chicago Lighthouse, Chicago, Illinois; **Vitreo Retinal Associates, Gainesville, Florida; ††Bascom Palmer Eye Institute, University of Miami, Miami, Florida; ‡‡Applied Genetics Technologies Corporation (AGTC), Alachua, Florida; §§Department of Biophysics, Medical College of Wisconsin, Milwaukee, Wisconsin; and ¶¶Department of Ophthalmology, University of Florida, Gainesville, Florida.

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 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.

PMID:
28145975
PMCID:
PMC5537050
DOI:
10.1097/IAE.0000000000001434
[Indexed for MEDLINE]
Free PMC Article

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