14,286 results match your criteria: "Eye Diseases Hereditary"

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Datasets-Based Revisited: Heterozygous Missense Variants for Dominant Retinitis Pigmentosa While Truncation Variants Are Likely Non-Pathogenic.
Junwen Wang, Yingwei Wang, Yi Jiang, Shiqiang Li, Xiaoyun Jia

Curr Eye Res· August 2024

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CRB1-associated retinal degeneration is dependent on bacterial translocation from the gut.
Shanzhen Peng, Jing Jing Li, Wanying Song, Ye Li, Lei Zeng

March 2024

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Preclinical investigations on broccoli-derived sulforaphane for the treatment of ophthalmic disease.
Faith A A Kwa, Bang V Bui, Bruce R Thompson, Lauren N Ayton

September 2023

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Genotype-phenotype associations and human eye color.
Désirée White, Montserrat Rabago-Smith

January 2011

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Albinism in the domestic cat (Felis catus) is associated with a tyrosinase (TYR) mutation.
D L Imes, L A Geary, R A Grahn, L A Lyons

April 2006

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A new variant in the UCHL1 gene supporting its implication in late-onset ataxia with optic atrophy.
Valeria Gioiosa, Christian Marcotulli, Manon Degoutin, Chloé Angelini, Cyril Goizet

Neurol Sci· December 2025

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Psychosocial observations in ocular genetics consultations: from genetic diagnosis to rehabilitation.
Cecília Francini Cabral de Vasconcellos, Marina Cruz Pellissari, Mariana Valim Salles, Juliana Maria Ferraz Sallum

Int Ophthalmol· December 2025

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Gynecologic Manifestations of Hereditary Syndromes: Clinical and Imaging Spectrum.
Ekta Maheshwari, Shaun A Wahab, Ashish P Wasnik, Katherine E Maturen, Phuong L Mai

Radiographics· January 2026

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Molecular Studies of Gene and Correlation with Late-Onset Fuchs Endothelial Corneal Dystrophy in the Greek Population: A Novel Cost-Effective Diagnostic Algorithm.
Natalia Petri, Angeliki Margoni, Konstantinos Droutsas, Andriana Diamantopoulou, Nikolaos Kappos

Int J Mol Sci· November 2025

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Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.
Zied Riahi, Sophie Boucher, Samia Abdi, Fabienne Wong Jun Tai, Amrit Singh-Estivalet

Proc Natl Acad Sci U S A· December 2025

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Mitochondria-targeted gene delivery using fluorinated lipid nanoparticles to alleviate Leber's hereditary optic neuropathy.
Yi Wang, Min Zhao, Hai-Xin Xie, Hao-Yuan Yu, Jing-Song Yang

Nat Commun· December 2025

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Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.
Kirill Zaslavsky, Anupreet Tumber, Eoghan Millar, Olga Boginskaia, Heather MacDonald

Invest Ophthalmol Vis Sci· December 2025

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Trans-generational maintenance of mitochondrial DNA integrity in oocytes during early folliculogenesis.
Qin Xie, Haibo Wu, Jiaxin Qiu, Junbo Liu, Xueyi Jiang

PLoS Genet· December 2025

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Application of Machine Learning to Discriminate Photoreceptor Cell Species in Xenotransplanted Chimeric Retinas.
Kang V Li, Annabelle Pan, Ying V Liu, Bani Antonio-Aguirre, Joyce Wang

Clin Transl Sci· December 2025

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Retinal Pigment Epithelium Extracellular Vesicles Induce Microglia Polarization in MERTK-Associated Retinal Degeneration.
Hang Zhang, Zhen-Yu Liu, Lingzi Wu, Jing Yuan, Xiao Zhang

Invest Ophthalmol Vis Sci· December 2025

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Senior-Løken syndrome with IQCB1/NPHP5 mutation in an adult: a case report.
İrem Demirtas, Sibel Gökcay Bek

J Med Case Rep· November 2025

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Subsequent Primary Hematologic Malignancies in a 21-Year-Old Retinoblastoma Survivor: Case Report Study.
Elham Karimi, Shalaleh Abbasnezhad, Maedeh Arabpour, Sepideh Abdollahi, Mohammad Biglari

Cancer Rep (Hoboken)· December 2025

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Bietti crystalline corneoretinal dystrophy: Advances in understanding and gene therapeutic approaches.
Guangrong Zhao, Dayou Ding

Mol Vis· November 2025

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Clinical and Molecular Clues to Diagnosing Hereditary Hyperferritinemia-Cataract Syndrome: Case Report and Literature Review.
Barbora Ludikova, Lucie Sochorcova, Damjan Jaksic, Katarina Hlusickova Kapralova, Monika Horvathova

Genes (Basel)· November 2025

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Linking Mitochondrial Gene Dysregulation to Immune Cell Shifts in Retinitis Pigmentosa.
Jia Liang, Bo Wu, Xiangqing Hei, Lu Chen, Yuke Ji

Mol Neurobiol· November 2025

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Preclinical Assessment of Mitochondrial-Targeted ND4 Gene Therapy for Leber Hereditary Optic Neuropathy.
Yingjia Dong, Zixuan Hao, Yuan Liu, Aiqin Chang, Vittorio Porciatti

Invest Ophthalmol Vis Sci· November 2025

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In vivo mitochondrial base editing restores genotype and visual function in a mouse model of LHON.
Sanghun Kim, Jieun Kim, Seongkwang Cha, Sungjin Ju, Chae Jin Lim

Nat Commun· November 2025

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Utilization of an automated machine learning approach for the detection of granular corneal dystrophy via slit lamp photographs.
Negin Yavari, S Saeed Mohammadi, Jared T Sokol, Dalia El Feky, MohammadBagher Rajabi

BMC Ophthalmol· November 2025

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Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophy.
Claudio Fiorini, Neringa Jurkute, Alessandra Torraco, Chiara La Morgia, Daniele Ghezzi

Brain· November 2025

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Multigenerational VHL family characterized by pathogenic germline ELOC variant: Response to belzutifan.
Cathy D Vocke, Christopher J Ricketts, Lidenys O'Brien, Alexandra P Lebensohn, Nityam Rathi

Urol Oncol· November 2025

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From Castro to Quantum Mechanics: Marching Through Tunnels With Reactive Oxygen Species.
Alfredo A Sadun, Danielle A Gauthier, Maryam Golmohammadi

J Neuroophthalmol· December 2025

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Papilledema suspicion in ophthalmology practice: clinical profiles and structural-functional assessment of the optic nerve in referred cases.
Eyupcan Sensoy, Saniye Uke Uzun, Mehmet Emre Ayan

Int Ophthalmol· November 2025

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Knowledge and Awareness of Glaucoma Among Medical Students in Aseer Region, Saudi Arabia.
Abdulrahman Alamri, Hanan A AlKaabi, Ameera T Alzahrani, Atheer H AlMatar, Dalia S Almosleh

Cureus· October 2025

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Case report: Surgical and clinical results in bilateral lenticonus due to Alport syndrome.
Esen Çakmak-Cengiz, Fadime Karaman-Atasever, Ertuğrul Can

Rom J Ophthalmol· November 2025

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Role of JAM-C in lens cell adhesion, calcium homeostasis, and cataract pathogenesis.
Jiani Li, Qihang Sun, Fa Yuan, Yi Tian, Jingyu Ma

Exp Eye Res· January 2026

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Location and Identity of Photoreceptors Contributing to the Full-Field Stimulus Test (FST).
Artur V Cideciyan, Hongsong Neuhauser, Alejandro J Roman, Tomas S Aleman

Invest Ophthalmol Vis Sci· October 2025

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Super mitochondria-enriched extracellular vesicles enable enhanced mitochondria transfer.
Yi Wang, Hao-Yuan Yu, Zi-Juan Yi, Lian-Yu Qi, Jing-Song Yang

Nat Commun· October 2025

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