| CASE REPORT |
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| Year : 2022 | Volume
: 4
| Issue : 1 | Page : 55 |
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Maternally inherited diabetes and deafness macular dystrophy
Vitor Miranda, Catarina Aguiar, Jao Chibante-Pedro, Miguel Ruao
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
 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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