Below are the most recent publications written about "Eye Abnormalities" by people in Profiles.
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Yokoi T, Ni RL, Sivalingam MD, Yonekawa Y. Recent advancements in optic disc pit maculopathy management. Curr Opin Ophthalmol. 2025 May 01; 36(3):210-218.
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Luvisi J, Morris T, Say E. Unilateral Diffuse Pigmentary Retinopathy Associated With Optic Disc Pit. JAMA Ophthalmol. 2024 Jan 01; 142(1):e234725.
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Fujimoto S, Kokame GT, Ryan EH, Johnson MW, Hirakata A, Shirriff A, Ishikawa H, Adams OE, Bommakanti N. Macular Retinoschisis from Optic Disc without a Visible Optic Pit or Advanced Glaucomatous Cupping (No Optic Pit Retinoschisis [NOPIR]). Ophthalmol Retina. 2023 09; 7(9):811-818.
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Kumar N, Nomakuchi T, Vossough A, Leonard JMM, Dubbs H, Agarwal S. A Case of INPP5E-Related Joubert Syndrome: Connecting Evolving Phenotype With Novel Genotype. Pediatr Neurol. 2023 Aug; 145:112-114.
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Reis LM, Atilla H, Kannu P, Schneider A, Thompson S, Bardakjian T, Semina EV. Distinct Roles of Histone Lysine Demethylases and Methyltransferases in Developmental Eye Disease. Genes (Basel). 2023 Jan 14; 14(1).
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Reis LM, Sorokina EA, Dudakova L, Moravikova J, Skalicka P, Malinka F, Seese SE, Thompson S, Bardakjian T, Capasso J, Allen W, Glaser T, Levin AV, Schneider A, Khan A, Liskova P, Semina EV. Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders. Hum Mol Genet. 2021 08 12; 30(17):1591-1606.
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Dworschak GC, Punetha J, Kalanithy JC, Mingardo E, Erdem HB, Akdemir ZC, Karaca E, Mitani T, Marafi D, Fatih JM, Jhangiani SN, Hunter JV, Dakal TC, Dhabhai B, Dabbagh O, Alsaif HS, Alkuraya FS, Maroofian R, Houlden H, Efthymiou S, Dominik N, Salpietro V, Sultan T, Haider S, Bibi F, Thiele H, Hoefele J, Riedhammer KM, Wagner M, Guella I, Demos M, Keren B, Buratti J, Charles P, Nava C, H?ron D, Heide S, Valkanas E, Waddell LB, Jones KJ, Oates EC, Cooper ST, MacArthur D, Syrbe S, Ziegler A, Platzer K, Okur V, Chung WK, O'Shea SA, Alcalay R, Fahn S, Mark PR, Guerrini R, Vetro A, Hudson B, Schnur RE, Hoganson GE, Burton JE, McEntagart M, Lindenberg T, Yilmaz ?, Odermatt B, Pehlivan D, Posey JE, Lupski JR, Reutter H. Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies. Genet Med. 2021 09; 23(9):1715-1725.
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Reis LM, Costakos D, Wheeler PG, Bardakjian T, Schneider A, Fung SSM, Semina EV. Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia. Clin Genet. 2021 03; 99(3):437-442.
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Karadag R, Rapuano CJ, Hammersmith KM, Nagra PK. Causes of congenital corneal opacities and their management in a tertiary care center. Arq Bras Oftalmol. 2020 Mar-Apr; 83(2):98-102.
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Zazo-Seco C, Plaisanci? J, Bitoun P, Corton M, Arteche A, Ayuso C, Schneider A, Zafeiropoulou D, Gilissen C, Roche O, Fr?mont F, Calvas P, Slavotinek A, Ragge N, Chassaing N. Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis. J Hum Genet. 2020 May; 65(5):487-491.