The Pan-American Journal of Ophthalmology

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

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

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.


How to cite this article:
Miranda V, Aguiar C, Chibante-Pedro J, Ruao M. Maternally inherited diabetes and deafness macular dystrophy.Pan Am J Ophthalmol 2022;4:55-55


How to cite this URL:
Miranda V, Aguiar C, Chibante-Pedro J, Ruao M. Maternally inherited diabetes and deafness macular dystrophy. Pan Am J Ophthalmol [serial online] 2022 [cited 2022 Dec 7 ];4:55-55
Available from: https://www.thepajo.org/article.asp?issn=2666-4909;year=2022;volume=4;issue=1;spage=55;epage=55;aulast=Miranda;type=0