Bilateral plaque like macular atrophy and pigmentary retinopathy in an infant with a missense mutation in the <i>MFF</i> gene-Reference-Cited by-同舟云学术

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Bilateral plaque like macular atrophy and pigmentary retinopathy in an infant with a missense mutation in the MFF gene

Published:2023-03-22 Issue:5 Volume:44 Page:491-495
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Kılıçarslan Oğuzhan¹^ORCID,Batu Oto Bilge²^ORCID,Yetik Hüseyin²,Ağırbaşlı Deniz³,Kalaycı Yiğin Aysel³,Çelik Gökhan⁴

Affiliation:

1. Department of Ophthalmology, Sinop Ayancık State Hospital, Sinop, Turkey

2. Department of Ophthalmology, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey

3. Department of Medical Genetics, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey

4. Department of Ophthalmology, ROP Screening, Treatment and Training Center, Zeynep Kamil Maternity and Children’s Disease Training and Research Hospital, Istanbul, Turkey

Funder

no funding

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2023.2189945

Reference15 articles.

1. Mitochondrial disorders and the eye

2. Ophthalmological findings in children and young adults with genetically verified mitochondrial disease

3. Retinal manifestations in mitochondrial diseases associated with mitochondrial DNA mutation

4. Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes

5. Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy

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