Advanced search
Publication Cover
Ophthalmic Genetics Volume 42, 2021 - Issue 3
Submit an article Journal homepage
184
Views
2
CrossRef citations to date
0
Altmetric
Case Reports

Multimodal imaging of an RPGR carrier female

David A. Kilgorea Jones Eye Institute, Department of Ophthalmology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USAView further author information
,
Tyler A. Kilgoreb College of Medicine, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USAView further author information
,
Suporn Sukpraprut-Braatenc Department of Graduate Medical Education, Unity Health–White County Medical Center, Searcy, Arkansas, USAView further author information
,
Gerald B. Schaeferd Department of Genetics, Arkansas Children’s Hospital, Little Rock, Arkansas, USAView further author information
&
Sami H. Uwaydata Jones Eye Institute, Department of Ophthalmology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USACorrespondence[email protected]
View further author information
Pages 312-316 | Received 23 Sep 2020, Accepted 17 Jan 2021, Published online: 23 Feb 2021

References

  • Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet. 2006;368(9549):1795–809.
  • Tee JJ, Smith AJ, Hardcastle AJ, Michaelides M. RPGR-associated retinopathy: clinical features, molecular genetics, animal models and therapeutic options. Br J Ophthalmol. 2016;100(8):1022–27.
  • Shu X, Black GC, Rice JM, Hart-Holden N, Jones A, O’Grady A, Ramsden S, Wright AF. RPGR mutation analysis and disease: an update. Hum Mutat. 2007;28(4):322–28.
  • Comander J, Weigel-DiFranco C, Sandberg MA, Berson EL. Visual function in carriers of X-linked retinitis pigmentosa. Ophthalmology. 2015;122(9):1899–906.
  • Fishman GA, Weinberg AB, McMahon TT. X-linked recessive retinitis pigmentosa. Clinical characteristics of carriers. Arch Ophthalmol. 1986;104(9):1329–35.
  • Falls HF, Cotterman CW. Choroidal degeneration: a sex-linked form in which heterozygous women exhibit a tapetal-like reflex. Arch Ophthalmol. 1948;40:685–703.
  • Grover S, Fishman GA, Anderson RJ, Lindeman M. A longitudinal study of visual function in carriers of X-linked recessive retinitis pigmentosa. Ophthalmology. 2000;107(2):386–96.
  • Nanda A, Salvetti AP, Clouston P, Downes SM, MacLaren RE. Exploring the variable phenotypes of RPGR carrier females in assessing their potential for retinal gene therapy. Genes (Basel). 2018;9(12):643.
  • Krill AE. Observations of carriers of X-chromosomal-linked chorioretinal degenerations. Do these support the “inactivation hypothesis”? Am J Ophthalmol. 1967;64:1029–40.
  • Wu H, Luo J, Yu H, Rattner A, Mo A, Wang Y, Smallwood PM, Erlanger B, Wheelan SJ, Nathans J. Cellular resolution maps of X chromosome inactivation: implications for neural development, function, and disease. Neuron. 2014;81(1):103–19.
  • Yanagi Y, Tamaki Y, Takahashi H, Sekine H, Mori M, Hirato T, Okajima O. Clinical and functional findings in crystalline retinopathy. Retina. 2004;24(2):267–74.
  • Kovach JL, Isildak H, Sarraf D. Crystalline retinopathy: unifying pathogenic pathways of disease. Surv Ophthalmol. 2019;64(1):1–29.
  • Keane PA, Sadda SR. Retinal imaging in the twenty-first century: state of the art and future directions. Ophthalmology. 2014;121(12):2489–500.
  • Nagiel A, Lalane RA, Sadda SR, Schwartz SD. Ultra-widefield fundus imaging. Retina. 2016;36(4):660–78.
  • DeHoog E, Schwiegerling J. Fundus camera systems: a comparative analysis. Appl Opt. 2009;48(2):221–28.
  • Witmer MT, Parlitsis G, Patel S, Kiss S. Comparison of ultra-widefield fluorescein angiography with the heidelberg spectralis(®) noncontact ultra-widefield module versus the optos(®) optomap(®). Clin Ophthalmol. 2013;7:389–94.
  • Salz DA, Witkin AJ. Imaging in diabetic retinopathy. Middle East Afr J Ophthalmol. 2015;22(2):145–50.
  • Ajlan RS, Barnard LR, Mainster MA. Nonconfocal ultra-widefield scanning laser ophthalmoscopy: polarization artifacts and diabetic macular edema. Retina. 2020;40(7):1374–78.
  • Meshi A, Lin T, Dans K, Chen KC, Amador M, Hasenstab K, Muftuoglu IK, Nudleman E, Chao D, Bartsch DU, et al. Comparison of retinal pathology visualization in multispectral scanning laser imaging. Retina. 2019;39(7):1333–42.
  • Pang CE, Freund KB. Ghost maculopathy: an artifact on near-infrared reflectance and multicolor imaging masquerading as chorioretinal pathology. Am J Ophthalmol. 2014;158(1):171–178.e2.
  • Cideciyan AV, Jacobson SG. Image analysis of the tapetal-like reflex in carriers of X-linked retinitis pigmentosa. Invest Ophthalmol Vis Sci. 1994;35:3812–24.
  • Berendschot TT, DeLint PJ, van Norren D. Origin of tapetallike reflexes in carriers of X-linked retinitis pigmentosa. Invest Ophthalmol Vis Sci. 1996;37:2716–23.
  • Kalitzeos A, Samra R, Kasilian M, Tee JJL, Strampe M, Langlo C, Webster AR, Dubra A, Carroll J, Michaelides M. Cellular imaging of the tapetal-like reflex in carriers of rpgr-associated retinopathy. Retina. 2019;39(3):570–80.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.