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Keywords: Leber’s hereditary optic neuropathy
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Journal Articles

DNAJC30 Mutation in a Patient with Coexisting Leber’s Hereditary Optic Neuropathy and Multiple Sclerosis (Harding’s Syndrome): A Case Report

Open Access
Subject Area:
Ophthalmology
Sara KamaliZonouzi, Jonathan Micieli
Journal: Case Reports in Ophthalmology
Case Rep Ophthalmol (2025) 16 (1): 246–253.
https://doi.org/10.1159/000545079
Published Online: 07 March 2025
...Sara KamaliZonouzi; Jonathan Micieli Introduction: Patients with Leber’s hereditary optic neuropathy (LHON) have a higher risk of developing multiple sclerosis (MS) than the general population. The coexistence of LHON and MS, also known as Harding’s syndrome complicates the diagnosis of optic...
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Journal Articles

A Rare ND5 Mutation Causing Leber’s Hereditary Optic Neuropathy

Open Access
Subject Area:
Topic Article Package: ADC (Antibody-Drug Conjugates) , Ophthalmology
Bhadra U Pandya, Amir R. Vosoughi, Aaditeya Jhaveri, Jonathan A. Micieli
Journal: Case Reports in Ophthalmology
Case Rep Ophthalmol (2023) 14 (1): 99–103.
https://doi.org/10.1159/000529423
Published Online: 16 March 2023
...Bhadra U Pandya; Amir R. Vosoughi; Aaditeya Jhaveri; Jonathan A. Micieli Mutations to the ND5 gene are uncommonly associated with Leber’s hereditary optic neuropathy (LHON). Herein, we describe a 57-year-old man with the m. 13528A>G, p. (Thr398Ala) mutation at the ND5 gene who presented...
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Journal Articles

A Female Patient with Down Syndrome and Low-Penetrance Leber's Hereditary Optic Neuropathy

Open Access
Subject Area:
Ophthalmology
Starleen E. Frousiakis, Andrew E. Pouw, Rustum Karanjia, Alfredo A. Sadun
Journal: Case Reports in Ophthalmology
Case Rep Ophthalmol (2014) 5 (3): 405–410.
https://doi.org/10.1159/000369612
Published Online: 27 November 2014
...Starleen E. Frousiakis; Andrew E. Pouw; Rustum Karanjia; Alfredo A. Sadun We present the case of a 19-year-old female with a history of Down syndrome (DS) who was referred to our neuro-ophthalmology clinic for evaluation of Leber's hereditary optic neuropathy (LHON). The patient's family history...
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