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Aland Island Eye Disease with Retinoschisis in the Clinical Spectrum of CACNA1F -Associated Retinopathy-A Case Report.

• Authors : Wyględowska-Promieńska D; Department of Ophthalmology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-514 Katowice, Poland.; Kornel Gibiński University Clinical Center, 40-514 Katowice, Poland.

Subjects: Retinoschisis* ; Genetic Diseases, X-Linked*/Genetic Diseases, X-Linked*/Genetic Diseases, X-Linked*/genetics ; Retinal Diseases* Night blindness, congenital stationary; Cone-Rod Dystrophy, X-Linked, 3; Aland Island Eye Disease

• Source: International journal of molecular sciences [Int J Mol Sci] 2024 Mar 02; Vol. 25 (5). Date of Electronic Publication: 2024 Mar 02.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Signal Peptide Variants in Inherited Retinal Diseases: A Multi-Institutional Case Series.

• Authors : Jimenez HJ; Vickie and Jack Farber Vision Research Center, Wills Eye Hospital, Philadelphia, PA 19107, USA.; Procopio RA

Subjects: Retinal Diseases*/Retinal Diseases*/Retinal Diseases*/genetics ; Retinal Dystrophies*/Retinal Dystrophies*/Retinal Dystrophies*/genetics ; Retinal Dystrophies*/Retinal Dystrophies*/Retinal Dystrophies*/diagnosis

• Source: International journal of molecular sciences [Int J Mol Sci] 2022 Nov 01; Vol. 23 (21). Date of Electronic Publication: 2022 Nov 01.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Newer therapeutic options for inherited retinal diseases: Gene and cell replacement therapy.

• Authors : Battu R; Aster CMI Hospital; Centre for Eye Genetics and Research, Bengaluru, Karnataka, India.

Subjects: Retinal Diseases*/Retinal Diseases*/Retinal Diseases*/genetics ; Retinal Diseases*/Retinal Diseases*/Retinal Diseases*/therapy ; Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/genetics

• Source: Indian journal of ophthalmology [Indian J Ophthalmol] 2022 Jul; Vol. 70 (7), pp. 2316-2325.Publisher: Medknow Publications Country of Publication: India NLM ID: 0405376 Publication Model: Print Cited Medium: Internet ISSN: 1998-3689

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Towards an Understanding of Retinal Diseases and Novel Treatment.

• Authors : Joachim SC; Experimental Eye Research Institute, University Eye Hospital, Ruhr-University Bochum, In der Schornau 23-25, 44892 Bochum, Germany.

Subjects: Diabetic Retinopathy*/Diabetic Retinopathy*/Diabetic Retinopathy*/therapy ; Glaucoma*/Glaucoma*/Glaucoma*/therapy ; Macular Degeneration*/Macular Degeneration*/Macular Degeneration*/therapy

• Source: International journal of molecular sciences [Int J Mol Sci] 2022 Jul 08; Vol. 23 (14). Date of Electronic Publication: 2022 Jul 08.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Comparison of The Results of Sponsored Genetic Testing Panels for Inherited Retinal Diseases.

• Authors : Bao, Yicheng K.¹ (AUTHOR) ; Situ, Betty A.¹ (AUTHOR) ; Runner, Margaret² (AUTHOR)

• Source: Journal of Clinical Medicine. Jun2024, Vol. 13 Issue 11, p3118. 9p.

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Stem cell therapy for inherited retinal diseases: a systematic review and meta-analysis.

• Authors : Chen X; Department of Ophthalmology, Peking University People's Hospital, Eye Diseases and Optometry Institute, Beijing, China.; Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroid Diseases, Beijing, China.

Subjects: Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/genetics ; Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/therapy ; Choroidal Effusions*

• Source: Stem cell research & therapy [Stem Cell Res Ther] 2023 Oct 05; Vol. 14 (1), pp. 286. Date of Electronic Publication: 2023 Oct 05.Publisher: BioMed Central Country of Publication: England NLM ID: 101527581 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-6512

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Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases.

• Authors : Liang Y; Aier Eye Institute, Changsha, 410015, China.; Eye Center of Xiangya Hospital, Central South University, Changsha, 410008, China.

Subjects: Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/pathology ; Retinal Degeneration*/Retinal Degeneration*/Retinal Degeneration*/pathology ; Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/genetics

• Source: Stem cell research & therapy [Stem Cell Res Ther] 2023 Nov 27; Vol. 14 (1), pp. 340. Date of Electronic Publication: 2023 Nov 27.Publisher: BioMed Central Country of Publication: England NLM ID: 101527581 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-6512

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Clinical presentation and macular morphology in retinitis pigmentosa patients.

• Authors : Okonkwo ON; Department of Ophthalmology, Eye Foundation Hospital and Eye Foundation Retina Institute, Lagos, Nigeria.; Hassan AO

Subjects: Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/diagnosis ; Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/diagnostic imaging ; Macula Lutea*/Macula Lutea*/Macula Lutea*/diagnostic imaging

• Source: Annals of African medicine [Ann Afr Med] 2023 Oct-Dec; Vol. 22 (4), pp. 451-455.Publisher: Medknow Publications Country of Publication: India NLM ID: 101231417 Publication Model: Print Cited Medium: Internet ISSN: 0975-5764

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Investigating the associations of macular edema in retinitis pigmentosa.

• Authors : Arias JD; Jacobs Retina Center, University of California San Diego, San Diego, CA, USA.; Kalaw FGP

Subjects: Macular Edema*/Macular Edema*/Macular Edema*/genetics ; Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/complications ; Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/genetics

• Source: Scientific reports [Sci Rep] 2023 Aug 30; Vol. 13 (1), pp. 14187. Date of Electronic Publication: 2023 Aug 30.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Cells Special Issue: "The Molecular and Cellular Basis of Retinal Diseases".

• Authors : Pittler SJ; Department of Optometry and Vision Science, Vision Science Research Center, School of Optometry, University of Alabama at Birmingham, Birmingham, AL 35294-0019, USA.; Fliesler SJ

Subjects: Retinal Degeneration*/Retinal Degeneration*/Retinal Degeneration*/genetics ; Retinal Degeneration*/Retinal Degeneration*/Retinal Degeneration*/therapy ; Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/genetics

• Source: Cells [Cells] 2023 Jul 26; Vol. 12 (15). Date of Electronic Publication: 2023 Jul 26.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409

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