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 01 01; 142(1):e234725.
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Sklar BA, Pisuchpen P, Bareket M, Milman T, Eagle RC, Minor J, Procopio R, Capasso J, Levin AV, Hammersmith K. Identification and Management of a Novel PRDM5 Gene Pathologic Variant in a Family With Brittle Cornea Syndrome. Cornea. 2023 Dec 01; 42(12):1572-1577.
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Cervera-Taulet E, Montero-Hern?ndez J, Monferrer Adsuara C, Pulido JS. The contribution of indocyanine green angiography in a case of unilateral retinal pigment epithelium dysgenesis. Eur J Ophthalmol. 2024 May; 34(3):NP46-NP52.
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Okoye O, Capasso J, Kopinsky SM, Amlie-Wolf L, Levin AV, Schneider A. SOX2 pathogenic variants with normal eyes: Expanding the phenotypic spectrum. Am J Med Genet A. 2023 08; 191(8):2198-2203.
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Procopio R, Pulido JS, Gunton KB, Syed ZA, Lee D, Moster ML, Sergott R, Neidich JA, Reynolds MM. Comparing Gene Panels for Non-Retinal Indications: A Systematic Review. Genes (Basel). 2023 03 17; 14(3).
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Reis LM, Maheshwari M, Capasso J, Atilla H, Dudakova L, Thompson S, Zitano L, Lay-Son G, Lowry RB, Black J, Lee J, Shue A, Kremlikova Pourova R, Vaneckova M, Skalicka P, Jedlickova J, Trkova M, Williams B, Richard G, Bachman K, Seeley AH, Costakos D, Glaser TM, Levin AV, Liskova P, Murray JC, Semina EV. Axenfeld-Rieger syndrome: more than meets the eye. J Med Genet. 2023 04; 60(4):368-379.
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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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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.