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CASE REPORT
Year : 2022  |  Volume : 4  |  Issue : 1  |  Page : 55

Maternally inherited diabetes and deafness macular dystrophy


Hospital Centre Entre o Douro e Vouga, Santa Maria da Feira, Portugal

Correspondence Address:
Vitor Miranda
Hospital Centre Entre o Douro e Vouga, Santa Maria da Feira
Portugal
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/pajo.pajo_47_22

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The m.3243A>G variant in the MTL1 gene is a DNA point mutation which has been shown to cause a variety of diseases including retinal abnormalities. We report on the ophthalmologic phenotype and systemic findings in a new patient with this mutation, presenting with sensorineural hearing loss, diabetes and macular dystrophy. We characterized the retinal phenotype with a multimodal approach and throughout the follow-up period we observed sustained centripetal progression of the areas of chorioretinal atrophy.


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