نتائج البحث

Natural History of Autosomal Dominant Optic Atrophy (ADOA), Caused by OPA1 Mutation

• Source: A Natural History Study in Patients With Genetically Confirmed Diagnosis of Autosomal Dominant Optic Atrophy (ADOA), Caused by OPA1

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Creation of an Isogenic Human iPSC-Based RGC Model of Dominant Optic Atrophy Harboring the Pathogenic Variant c.1861C>T (p.Gln621Ter) in the OPA1 Gene.

• Authors : García-López M; Grupo de Investigación Traslacional con Células iPS, Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), 28041 Madrid, Spain.; Jiménez-Vicente L

Subjects: Optic Atrophy, Autosomal Dominant*/Optic Atrophy, Autosomal Dominant*/Optic Atrophy, Autosomal Dominant*/genetics ; Optic Atrophy, Autosomal Dominant*/Optic Atrophy, Autosomal Dominant*/Optic Atrophy, Autosomal Dominant*/pathology ; Optic Atrophy, Autosomal Dominant*/Optic Atrophy, Autosomal Dominant*/Optic Atrophy, Autosomal Dominant*/metabolism

• Source: International journal of molecular sciences [Int J Mol Sci] 2024 Jun 30; Vol. 25 (13). Date of Electronic Publication: 2024 Jun 30.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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An uncommon cause of optic atrophy in a young male.

• Authors : Ravishankar M; Department of Ophthalmology, Rajan Eye Care Hospital, Chennai, Tamil Nadu, India.; Mohankumar A

Subjects: Optic Atrophy*/Optic Atrophy*/Optic Atrophy*/diagnosis ; Optic Atrophy*/Optic Atrophy*/Optic Atrophy*/etiology; Humans

• Source: Indian journal of ophthalmology [Indian J Ophthalmol] 2024 May 01; Vol. 72 (5), pp. 626. Date of Electronic Publication: 2024 Apr 22.Publisher: Medknow Publications Country of Publication: India NLM ID: 0405376 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Short Wavelength Automated Perimetry, Standard Automated Perimetry, and Optical Coherence Tomography in Dominant Optic Atrophy.

• Authors : Lombardo, Marco¹ (AUTHOR) ; Cusumano, Andrea¹ (AUTHOR); Mancino, Raffaele¹ (AUTHOR)

• Source: Journal of Clinical Medicine. Apr2024, Vol. 13 Issue 7, p1971. 11p.

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Tolerance and Efficacy Nicotinamide (Vitamin B3) in Dominant Optic Atrophy OPA1 (NICOPA1-TOL)

• Source: Pilot Study of Tolerance and Efficacy Nicotinamide (Vitamin B3) in Dominant Optic Atrophy OPA1

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Drosophila model to clarify the pathological significance of OPA1 in autosomal dominant optic atrophy

• Authors : Yohei Nitta; Jiro Osaka; Ryuto Maki

Subjects: dominant optic atrophy; Drosophila; OPA1

• Source: eLife, Vol 12 (2024)

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A case for the use of chemotherapy in hereditary mitochondrial optic neuropathies: Successful administration of cisplatin/etoposide in a male patient with testicular seminoma and Leber's hereditary optic neuropathy.

• Authors : Vrisakis, Jean‐Luc¹ (AUTHOR) ; Fraser, Clare L.^2,3 (AUTHOR); Shahnam, Adel⁴ (AUTHOR)

• Source: Clinical Case Reports. Jul2024, Vol. 12 Issue 7, p1-5. 5p.

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Insight into adult-onset metachromatic leukodystrophy with optic atrophy: A comprehensive case report

• Authors : Shailendra Katwal, MD; Sundar Suwal, MD; Suman Lamichhane, MD

Subjects: Adult onset; Metachromatic leukodystrophy (MLD); Optic atrophy

• Source: Radiology Case Reports, Vol 18, Iss 11, Pp 4182-4186 (2023)

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Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling.

• Authors : Chang YH; Department of Ophthalmology, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, Taiwan.; College of Medicine, Chang Gung University, Taoyuan, Taiwan.

Subjects: Retinal Degeneration*/Retinal Degeneration*/Retinal Degeneration*/genetics ; Optic Atrophy*; Humans

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 May 31; Vol. 18 (1), pp. 131. Date of Electronic Publication: 2023 May 31.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Profile of optic atrophy presented in the neuro-ophthalmology department of the tertiary eye care center

• Authors : Kabindra Bajracharya; Kriti Joshi; Anjita Hirachan

Subjects: profile; optic atrophy; causes

• Source: Asian Journal of Medical Sciences, Vol 14, Iss 8, Pp 152-156 (2023)

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