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. 2022 Nov 1;16(6):714-720.
doi: 10.1097/ICB.0000000000001067.

THE PROGRESSION OF MACULAR STRUCTURAL AND FUNCTIONAL CHANGES IN LATE-ONSET RETINAL DEGENERATION

Vasileios T Papastavrou  1 , Jill M O'Brien  1 , Aedheen J Regan  1 , Akhunzada M Aftab  1   2 , Andrew C Browning  1
Affiliations

THE PROGRESSION OF MACULAR STRUCTURAL AND FUNCTIONAL CHANGES IN LATE-ONSET RETINAL DEGENERATION

Vasileios T Papastavrou et al. Retin Cases Brief Rep. .

Abstract

Background/purpose: To characterize the progression of structural and functional changes in the retinas of a small cohort of unrelated patients with early late-onset retinal degeneration and evaluate these changes as potential biomarkers for future treatment trials.

Methods: Best-corrected visual acuity, contrast sensitivity, Goldman visual fields, retinal sensitivity measurement by mesopic microperimetry, extent of ellipsoid zone disruption using spectral domain optical coherence tomography, and fundus autofluorescence imaging were performed at each biennial visit.

Patients: Three unrelated patients with molecularly confirmed late-onset retinal degeneration (S163R mutation in C1QTNF5 ) were prospectively followed for 4 years.

Results: The patient's ages were 44, 54, and 62 at baseline. Over the 4-year follow-up period, one patient demonstrated a significant reduction in best-corrected visual acuity (6 Early Treatment of Diabetic Retinopathy Study letters), whereas two patients suffered a significant reduction in contrast sensitivity. Early in the disease, there was a close relationship between ellipsoid zone disruption and a loss in retinal sensitivity. Later in the course of the disease, there were areas outside the zones of ellipsoid zone disruption that also suffered progressive loss of retinal sensitivity, suggesting that ellipsoid zone loss was not the only factor responsible for the loss of retinal sensitivity. Changes in fundus autofluorescence and Goldman visual field loss were not closely related to changes in ellipsoid zone disruption or retinal sensitivity loss.

Conclusion: This study has found that the monitoring of the progression of ellipsoid zone disruption and changes in mesopic microperimetry may be useful biomarkers in future clinical trials in patients with late-onset retinal degeneration.

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References

    1. Hayward C, Shu X, Cideciyan AV, et al. Mutation in a short-chain collagen gene, CTRP5 , results in an extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration. Hum Mol Genet 2003;12:2657–2667.
    1. Kuntz CA, Jacobson SG, Cideciyan AV, et al. Sub-retinal pigment epithelial deposits in a dominant late-onset retinal degeneration. Invest Ophthalmol Vis Sci 1996;37:1772–1782.
    1. Milam AH, Curcio CA, Cideciyan AV, et al. Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration. Ophthalmology 2000;107:2256–2266.
    1. Ayyagari R, Mandal MN, Karoukis AJ, et al. Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation. Invest Ophthalmol Vis Sci 2005;46:3363–3371.
    1. Cukras C, Flamendorf J, Wong WT, et al. Longitudinal structural changes in late-onset retinal deneration. Retina 2016;36:2348–2356.

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