Outer retinal microcavitations in Retinitis Pigmentosa: a novel OCT finding common in RP1-related retinopathy.

Author:

Dimopoulos Ioannis S.1,Huryn Laryssa A.1,Hufnagel Robert B.12,Ullah Ehsan12,Agather Aime R.1,Blain Delphine1,Brooks Brian P.1,Cukras Catherine A.13,Zein Wadih M.1

Affiliation:

1. Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA

2. Medical Genetics and Ophthalmic Genomics Unit, National Eye Institute, National Institutes of Health, Bethesda, MD, USA

3. Unit on Clinical Investigation of Retinal Disease, National Eye Institute, National Institutes of Health, Bethesda, MD, USA

Abstract

PURPOSE. To describe a novel optical coherence tomography (OCT) finding of outer retina microcavitations in RP1-related retinopathy and other retinal degenerations. METHODS. Medical charts and OCT images of 28 patients with either autosomal dominant (adRP) or recessive (arRP) RP1-related retinopathy were reviewed. Outer retina microcavitations were defined as hypo-reflective OCT structures of at least 30μm in diameter between the ellipsoid zone (EZ) and retinal pigment epithelium. Comparison was made based on the following metrics: (i) functional measures including best-corrected visual acuity (BCVA) and color discrimination errors on D-15 test; and (ii) structural measures, including central subfield (CSF), average macular thickness (AMT), and preserved transfoveal EZ width. Mann-Whitney tests were used for comparisons with significance set at P<0.05. The specificity of microcavitations for RP1-related retinopathy was estimated against 26 patients with non-RP1 RP. RESULTS. Among 15 included patients, microcavitations were found in at least one eye of all arR patients and 7/12 (58%) of adR patients. Patients with adR and microcavitations were older at the time of examination (51 vs. 43 years of age; p=0.04) and their eyes demonstrated worse BCVA (0.09 vs. 0 logMAR; p=0.008), reduced CSF (256 vs. 293μm; p=0.01), AMT (241 vs. 270μm; p=0.02) and shorter transfoveal EZ widths (1.67 vs. 4.98mm; p<0.0001). The finding of microcavitations showed a specificity of 0.92 for RP1-related retinopathy. CONCLUSION. A novel OCT finding of outer retina microcavitations was commonly observed in patients with RP1-related retinopathy. Eyes with outer retinal OCT microcavitations had worse visual function and more affected central retinal structure.

Funder

Intramural Research Fund of the National Eye Institute

Publisher

Ovid Technologies (Wolters Kluwer Health)

Reference24 articles.

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3. Retinitis pigmentosa due to Rp1 biallelic variants;Silva;Sci Rep,2020

4. Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors;Liu;Invest Ophthalmol Vis Sci,2002

5. Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa;Bowne;Hum Mol Genet,1999

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