Gene therapy for RPE65-related retinal disease
Miraldi Utz, Virginia, Coussa, Razek Georges, Antaki, Fares, Traboulsi, Elias I.
Published in Ophthalmic genetics (02.11.2018)
Published in Ophthalmic genetics (02.11.2018)
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Gene therapy in inherited retinal degenerative diseases, a review
Takahashi, Vitor K. L., Takiuti, Júlia T., Jauregui, Ruben, Tsang, Stephen H.
Published in Ophthalmic genetics (03.09.2018)
Published in Ophthalmic genetics (03.09.2018)
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Stargardt disease and progress in therapeutic strategies
Huang, Di, Heath Jeffery, Rachael C., Aung-Htut, May Thandar, McLenachan, Samuel, Fletcher, Sue, Wilton, Steve D., Chen, Fred K.
Published in Ophthalmic genetics (02.01.2022)
Published in Ophthalmic genetics (02.01.2022)
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Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome
Igelman, Austin D, Ku, Cristy, da Palma, Mariana Matioli, Georgiou, Michalis, Schiff, Elena R, Lam, Byron L, Sankila, Eeva-Marja, Ahn, Jeeyun, Pyers, Lindsey, Vincent, Ajoy, Ferraz Sallum, Juliana Maria, Zein, Wadih M, Oh, Jin Kyun, Maldonado, Ramiro S, Ryu, Joseph, Tsang, Stephen H, Gorin, Michael B, Webster, Andrew R, Michaelides, Michel, Yang, Paul, Pennesi, Mark E
Published in Ophthalmic genetics (01.12.2021)
Published in Ophthalmic genetics (01.12.2021)
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A proposal for an updated staging system for LCHADD retinopathy
Wongchaisuwat, Nida, Gillingham, Melanie B, Yang, Paul, Everett, Lesley, Gregor, Ashley, Harding, Cary O, Sahel, Jose Alain, Nischal, Ken K, Scanga, Hannah L, Black, Danielle, Vockley, Jerry, Arnold, Georgianne, Pennesi, Mark E
Published in Ophthalmic genetics (01.04.2024)
Published in Ophthalmic genetics (01.04.2024)
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RPE65 mutations in Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa from a tertiary eye care center in India
Parameswarappa, Deepika C, Bagga, Deepak Kumar, Upadhyaya, Abhishek, Balasubramanian, Jeyapoorani, Pochaboina, Venkatesh, Muthineni, Vani, Jalali, Subhadra, Kannabiran, Chitra
Published in Ophthalmic genetics (03.05.2024)
Published in Ophthalmic genetics (03.05.2024)
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Mutations in AGBL5 associated with Retinitis pigmentosa
Paredes, Diego I, Bello, Nicholas R, Capasso, Jenina E, Procopio, Rebecca, Levin, Alex V
Published in Ophthalmic genetics (03.05.2024)
Published in Ophthalmic genetics (03.05.2024)
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Association of EFEMP1 with juvenile-onset open angle glaucoma in a patient with concomitant COL11A1 -related Stickler syndrome
Gupta, Viney, Somarajan, Bindu I, Gupta, Shikha, Mahalingam, Karthikeyan, Kumar, Manoj, Singh, Abhishek
Published in Ophthalmic genetics (01.06.2023)
Published in Ophthalmic genetics (01.06.2023)
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Expanding the phenotypic and genotypic spectrum of patients with HGSNAT -related retinopathy
da Palma, Mariana Matioli, Marra, Molly, Igelman, Austin D, Ku, Cristy A, Burr, Amanda, Andersen, Katherine, Everett, Lesley A, Porto, Fernanda B O, Sallum, Juliana Maria Ferraz, Yang, Paul, Pennesi, Mark E
Published in Ophthalmic genetics (01.04.2024)
Published in Ophthalmic genetics (01.04.2024)
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Primary congenital glaucoma in two siblings with different compound heterozygous CYP1B1 genotypes
Ruiz Guijosa, Alexandra, Morales, Laura Fernández, Martínez de la Casa, José María, Escribano, Julio, García Feijoo, Julián
Published in Ophthalmic genetics (01.08.2024)
Published in Ophthalmic genetics (01.08.2024)
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Journal Article
GAPO syndrome: a novel variant in ANTXR1 gene
Damagatla, Manikanta, Verma, Anshuman, Pochaboina, Venkatesh, Bhate, Manju, Senthil, Sirisha
Published in Ophthalmic genetics (01.08.2024)
Published in Ophthalmic genetics (01.08.2024)
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