Faculty Collaboration Database

Longitudinal Assessment of Retinal Structure in Achromatopsia Patients With Long-Term Follow-up. Invest Ophthalmol Vis Sci 2018 Dec 03;59(15):5735-5744

Date

12/05/2018

Pubmed ID

30513534

Pubmed Central ID

PMC6280917

DOI

10.1167/iovs.18-25452

Scopus ID

2-s2.0-85059543116 (requires institutional sign-in at Scopus site)   36 Citations

Abstract

PURPOSE: To longitudinally characterize structural retinal changes in achromatopsia (ACHM) over extended follow-up.

METHODS: Fifty molecularly confirmed ACHM subjects underwent serial spectral-domain optical coherence tomography (SD-OCT) and fundus autofluorescence (FAF) imaging. Foveal structure on SD-OCT was graded and compared for evidence of progression, and foveal total retinal thickness (FTRT) and outer nuclear layer (ONL) thickness were serially measured. FAF patterns were characterized and compared over time.

RESULTS: Mean SD-OCT follow-up was 61.6 months (age range at baseline, 6-52 years). Forty-five of the subjects had serial FAF (mean follow-up: 48.5 months). Only 6 (12%) of the subjects demonstrated qualitative change on serial foveal SD-OCT scans. Among the entire cohort, there was no statistically significant change over time in FTRT (P = 0.2459) or hyporeflective zone (HRZ) diameter (P = 0.3737). There was a small-but statistically significant-increase in ONL thickness (P = 0.0084). Three different FAF patterns were observed: centrally increased FAF (13/45), normal FAF (14/45), and well-demarcated reduced FAF (18/45), with the latter group displaying a small gradual increase in the area of reduced FAF of 0.055 mm2 over 43.4 months (P = 0.0011).

CONCLUSIONS: This longitudinal study of retinal structure in ACHM represents the largest cohort and longest follow-up period to date. Our findings support the presiding notion that ACHM is essentially a stationary condition regarding retinal structure, and any change over time is likely to be small, slow, and variable across patients. This may potentially afford a wider window for therapeutic intervention.

Author List

Hirji N, Georgiou M, Kalitzeos A, Bainbridge JW, Kumaran N, Aboshiha J, Carroll J, Michaelides M

Author

Joseph J. Carroll PhD Director, Professor in the Ophthalmology and Visual Sciences department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Adolescent
Adult
Child
Color Vision Defects
Female
Fluorescein Angiography
Follow-Up Studies
Fovea Centralis
Genetic Association Studies
Humans
Longitudinal Studies
Male
Middle Aged
Prospective Studies
Retina
Tomography, Optical Coherence
Visual Acuity
Visual Field Tests
Visual Fields
Young Adult