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Ophthalmic Surgery, Lasers and Imaging Retina, 2019;50(2):e44–e48
Cite this articlePublished Online:https://doi.org/10.3928/23258160-20190129-18Cited by:4

Abstract

RPGR-associated retinitis pigmentosa (RP) is a progressive disease with retina degeneration. Optical coherence tomography angiography (OCTA) is an imaging technique that provides novel insights. The authors report two affected male siblings who underwent OCTA imaging. The area of the foveal avascular zone (FAZ) was measured. Although the younger sibling exhibited more advanced clinical disease, his visual acuity was superior to his older sibling. OCTA imaging revealed a better preserved FAZ in the younger sibling as the reason for this. It also highlighted attenuation of choriocapillaris / choroid layers as biomarkers for disease severity. This provides new insights into retinal degeneration in RPGR-associated RP.

[Ophthalmic Surg Lasers Imaging Retina. 2019;50:e44–e48.]

  • 1.Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet. 2006; 368(9549):1795–1809.10.1016/S0140-6736(06)69740-7

    > Crossref MedlineGoogle Scholar
  • 2.Vervoort R, Lennon A, Bird AC, et al.Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. Nat Genet. 2000; 25(4):462–466.10.1038/78182

    > Crossref MedlineGoogle Scholar
  • 3.Hong DH, Pawlyk BS, Shang J, Sandberg MA, Berson EL, Li T. A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3). Proc Natl Acad Sci U S A. 2000; 97(7):3649–3654.10.1073/pnas.97.7.3649

    > Crossref MedlineGoogle Scholar
  • 4.Bassuk AG, Sujirakul T, Tsang SH, Mahajan VB. A novel RPGR mutation masquerading as Stargardt disease. Br J Ophthalmol. 2014; 98(5):709–711.10.1136/bjophthalmol-2013-304822

    > Crossref MedlineGoogle Scholar
  • 5.Zito I, Downes SM, Patel RJ, et al.RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections. J Med Genet. 2003; 40(8):609–615.10.1136/jmg.40.8.609

    > Crossref MedlineGoogle Scholar
  • 6.Tee JJL, Carroll J, Webster AR, Michaelides M. Quantitative analysis of retinal structure using spectral-domain optical coherence tomography in RPGR-associated retinopathy. Am J Ophthalmol. 2017; 178:18–26.10.1016/j.ajo.2017.03.012

    > Crossref MedlineGoogle Scholar
  • 7.Charng J, Cideciyan AV, Jacobson SG, et al.Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration. Hum Mol Genet. 2016; 25(24):5444–5459.10.1093/hmg/ddw361

    > Crossref MedlineGoogle Scholar
  • 8.Spaide RF, Fujimoto JG, Waheed NK, Sadda SR, Staurenghi G. Optical coherence tomography angiography. Prog Retin Eye Res. 2018; 64:1–55.10.1016/j.preteyeres.2017.11.003

    > Crossref MedlineGoogle Scholar
  • 9.Roisman L, Goldhardt R. OCT angiography: An upcoming non-invasive tool for diagnosis of age-related macular degeneration. Curr Ophthalmol Rep. 2017; 5(2):136–140.10.1007/s40135-017-0131-6

    > Crossref MedlineGoogle Scholar
  • 10.Coscas G, Lupidi M, Coscas F. Optical coherence tomography angiography in diabetic maculopathy. Dev Ophthalmol. 2017; 60:38–49.10.1159/000459688

    > Crossref MedlineGoogle Scholar
  • 11.Fujiwara A, Morizane Y, Hosokawa M, et al.Factors affecting foveal avascular zone in healthy eyes: An examination using swept-source optical coherence tomography angiography. PLoS One. 2017; 12(11):e0188572.10.1371/journal.pone.0188572

    > Crossref MedlineGoogle Scholar
  • 12.Rezaei KA, Zhang Q, Chen CL, Chao J, Wang RK. Retinal and choroidal vascular features in patients with retinitis pigmentosa imaged by OCT based microangiography. Graefes Arch Clin Exp Ophthalmol. 2017; 255(7):1287–1295.10.1007/s00417-017-3633-x

    > Crossref MedlineGoogle Scholar
  • 13.Battaglia-Parodi M, Cicinelli MV, Robiolo A, Pierro L, Bolognesi G, Bandello F. Vascular abnormalities in patients with Stargardt disease assessed with optical coherence tomography angiography. Br J Ophthalmol. 2017; 101(6):780–785.10.1136/bjophthalmol-2016-308869

    > Crossref MedlineGoogle Scholar
  • 14.Provis JM, Dubis AM, Maddess T, Carroll J. Adaptation of the central retina for high acuity vision: Cones, the fovea and the avascular zone. Prog Retin Eye Res. 2013; 35:63–81.10.1016/j.preteyeres.2013.01.005

    > Crossref MedlineGoogle Scholar
  • 15.Balaratnasingam C, Inoue M, Ahn S, et al.Visual acuity is correlated with the area of the foveal avascular zone in diabetic retinopathy and retinal vein occlusion. Ophthalmology. 2016; 123(11):2352–2367.10.1016/j.ophtha.2016.07.008

    > Crossref MedlineGoogle Scholar
  • 16.Iafe NA, Phasukkijwatana N, Chen X, Sarraf D. Retinal capillary density and foveal avascular zone area are age-dependent: Quantitative analysis using optical coherence tomography angiography. Invest Ophthalmol Vis Sci. 2016; 57(13):5780–5787.10.1167/iovs.16-20045

    > Crossref MedlineGoogle Scholar

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