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Peripapillary mitochondrial retinopathy secondary to a novel mitochondrial DNA mutation

Peripapillary mitochondrial retinopathy secondary to a novel mitochondrial DNA mutation
Peripapillary mitochondrial retinopathy secondary to a novel mitochondrial DNA mutation

Purpose:

To report a case of pigmentary retinopathy associated with a novel mitochondrial DNA mutation.

Methods:

Patient and Results: Patient presented with reduced vision. Visual acuity, ophthalmic examination, color photographs, spectral domain optical coherence tomography, autofluorescence, and genetic testing were performed. Pigmentary retinopathy together with perifoveal atrophy characteristic of mitochondrial retinopathy was identified. Genetic testing confirmed a novel mitochondrial mutation.

Conclusion:

We report bilateral symmetric retinopathy caused by a novel mitochondrial DNA mutation m.16021_16022delCT MTTP (tRNA pro).
1935-1089
Akyol, Engin
730cb803-2618-435e-a361-977f9a5c9780
Oshallah, Mohamed
585a52af-3398-4232-9076-210b73f574e7
Lotery, Andrew
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514
Akyol, Engin
730cb803-2618-435e-a361-977f9a5c9780
Oshallah, Mohamed
585a52af-3398-4232-9076-210b73f574e7
Lotery, Andrew
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514

Akyol, Engin, Oshallah, Mohamed and Lotery, Andrew (2019) Peripapillary mitochondrial retinopathy secondary to a novel mitochondrial DNA mutation. Retinal Cases & Brief Reports. (doi:10.1097/ICB.0000000000000922).

Record type: Article

Abstract


Purpose:

To report a case of pigmentary retinopathy associated with a novel mitochondrial DNA mutation.

Methods:

Patient and Results: Patient presented with reduced vision. Visual acuity, ophthalmic examination, color photographs, spectral domain optical coherence tomography, autofluorescence, and genetic testing were performed. Pigmentary retinopathy together with perifoveal atrophy characteristic of mitochondrial retinopathy was identified. Genetic testing confirmed a novel mitochondrial mutation.

Conclusion:

We report bilateral symmetric retinopathy caused by a novel mitochondrial DNA mutation m.16021_16022delCT MTTP (tRNA pro).

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More information

e-pub ahead of print date: 29 August 2019

Identifiers

Local EPrints ID: 436841
URI: http://eprints.soton.ac.uk/id/eprint/436841
ISSN: 1935-1089
PURE UUID: e3466525-bba1-4458-b79b-f7e9afbb6bc7
ORCID for Andrew Lotery: ORCID iD orcid.org/0000-0001-5541-4305

Catalogue record

Date deposited: 10 Jan 2020 17:34
Last modified: 10 Nov 2021 03:08

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Contributors

Author: Engin Akyol
Author: Mohamed Oshallah
Author: Andrew Lotery ORCID iD

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