Below are the most recent publications written about "Eye Diseases, Hereditary" by people in Profiles.
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Thuma TBT, Procopio RA, Jimenez HJ, Gunton KB, Pulido JS. Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases. Surv Ophthalmol. 2024 May-Jun; 69(3):337-348.
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Sigal A, Isenberg DL, Kraus CK, Ackerman D, Herres J, Brandler ES, Kuc A, Nomura JT, Cooney DR, Mullen MT, Zhao H, Gentile NT. A Shorter Door-In-Door-Out Time Is Associated with Improved Outcome in Large Vessel Occlusion Stroke. West J Emerg Med. 2023 Sep; 24(5):931-938.
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van der Ende SR, Meyers BS, Capasso JE, Sasongko M, Yonekawa Y, Pihlblad M, Huey J, Bedoukian EC, Krantz ID, Ngo MH, McMaster CR, Levin AV, Robitaille JM. Severe Familial Exudative Vitreoretinopathy, Congenital Hearing Loss, and Developmental Delay in a Child With Biallelic Variants in FZD4. JAMA Ophthalmol. 2022 09 01; 140(9):889-893.
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Rehman AU, Sepahi N, Bedoni N, Ravesh Z, Salmaninejad A, Cancellieri F, Peter VG, Quinodoz M, Mojarrad M, Pasdar A, Asad AG, Ghalamkari S, Piran M, Piran M, Superti-Furga A, Rivolta C. Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies. Sci Rep. 2021 09 29; 11(1):19332.
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Poulter JA, Gravett MSC, Taylor RL, Fujinami K, De Zaeytijd J, Bellingham J, Rehman AU, Hayashi T, Kondo M, Rehman A, Ansar M, Donnelly D, Toomes C, Ali M, De Baere E, Leroy BP, Davies NP, Henderson RH, Webster AR, Rivolta C, Zeitz C, Mahroo OA, Arno G, Black GCM, McKibbin M, Harris SA, Khan KN, Inglehearn CF. New variants and in silico analyses in GRK1 associated Oguchi disease. Hum Mutat. 2021 02; 42(2):164-176.
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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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Mayer AK, Balousha G, Sharkia R, Mahajnah M, Ayesh S, Schulze M, Buchert R, Zobor D, Azem A, Sch?ls L, Bauer P, Wissinger B. Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority. Eur J Hum Genet. 2020 06; 28(6):742-753.
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Witsberger E, Marmorstein A, Pulido J. Diffuse Outer Layer Opacification: A Novel Finding in Patients With Autosomal Recessive Bestrophinopathy. Asia Pac J Ophthalmol (Phila). 2019 Nov-Dec; 8(6):469-475.
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Price JM, Boparai RS, Wasserman BN. Congenital fibrosis of the extraocular muscles: review of recent literature. Curr Opin Ophthalmol. 2019 Sep; 30(5):314-318.
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Liu L, Yu MD, Shields CL. Papilledema or pseudopapilledema? Indian J Ophthalmol. 2019 04; 67(4):449.