Visual function and CFH/ARMS2 risk genotypes in macular dystrophy due to maternally inherited diabetes and deafness


Autoria(s): Feigl, Beatrix; Morris, C. Phillip
Data(s)

01/10/2013

Resumo

Maternally inherited diabetes and deafness (MIDD) is an autosomal dominant inherited syndrome caused by the mitochondrial DNA (mtDNA) nucleotide mutation A3243G. It affects various organs including the eye with external ophthalmoparesis, ptosis, and bilateral macular pattern dystrophy.1, 2 The prevalence of retinal involvement in MIDD is high, with 50% to 85% of patients exhibiting some macular changes.1 Those changes, however, can vary between patients and within families dramatically based on the percentage of retinal mtDNA mutations, making it difficult to give predictions on an individual’s visual prognosis...

Identificador

http://eprints.qut.edu.au/64498/

Publicador

Elsevier

Relação

DOI:10.1016/j.jcjo.2013.02.013

Feigl, Beatrix & Morris, C. Phillip (2013) Visual function and CFH/ARMS2 risk genotypes in macular dystrophy due to maternally inherited diabetes and deafness. Canadian Journal of Ophthalmology /Journal Canadien d'Ophtalmologie, 48(5), e111-e114.

Fonte

School of Biomedical Sciences; Faculty of Health; Institute of Health and Biomedical Innovation

Tipo

Journal Article