Mechanisms Underlying Rare Inherited Pediatric Retinal Vascular Diseases: FEVR, Norrie Disease, Persistent Fetal Vascular Syndrome.
Le V, Abdelmessih G, Dailey WA, Pinnock C, Jobczyk V, Rashingkar R, Drenser KA, Mitton KP.
Cells. 2023 Nov 5;12(21):2579. doi: 10.3390/cells12212579.
SNPs: impact on gene function and phenotype.
Shastry BS.
Methods Mol Biol. 2009;578:3-22. doi: 10.1007/978-1-60327-411-1_1.
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.
De Silva SR, Arno G, Robson AG, Fakin A, Pontikos N, Mohamed MD, Bird AC, Moore AT, Michaelides M, Webster AR, Mahroo OA.
Prog Retin Eye Res. 2021 May;82:100898. doi: 10.1016/j.preteyeres.2020.100898. Epub 2020 Aug 26.
Xp11.3 microdeletion causing Norrie disease and X-linked Kabuki syndrome.
Mansoor M, Coussa RG, Strampe MR, Larson SA, Russell JF.
Am J Ophthalmol Case Rep. 2023 Jan 19;29:101798. doi: 10.1016/j.ajoc.2023.101798. eCollection 2023 Mar.
The role of PLVAP in endothelial cells.
Denzer L, Muranyi W, Schroten H, Schwerk C.
Cell Tissue Res. 2023 May;392(2):393-412. doi: 10.1007/s00441-023-03741-1. Epub 2023 Feb 13.
[Norrie disease].
Okamoto N.
Ryoikibetsu Shokogun Shirizu. 2000;(29 Pt 4):524-6.
Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease.
Pauzuolyte V, Patel A, Wawrzynski JR, Ingham NJ, Leong YC, Karda R, Bitner-Glindzicz M, Berger W, Waddington SN, Steel KP, Sowden JC.
EMBO Mol Med. 2023 Oct 11;15(10):e17393. doi: 10.15252/emmm.202317393. Epub 2023 Aug 29.
Leukocoria.
Kanukollu VM, Tripathy K.
2023 Aug 25. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–.
NDP-Related Retinopathies.
Scruggs BA, Reding MQ, Schimmenti LA.
1999 Jul 30 [updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention.
Bryant D, Pauzuolyte V, Ingham NJ, Patel A, Pagarkar W, Anderson LA, Smith KE, Moulding DA, Leong YC, Jafree DJ, Long DA, Al-Yassin A, Steel KP, Jagger DJ, Forge A, Berger W, Sowden JC, Bitner-Glindzicz M.
JCI Insight. 2022 Feb 8;7(3):e148586. doi: 10.1172/jci.insight.148586.
