MIDD (Maternally Inherited Diabetes and Deafness) - OCT OD

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File number: 131535

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    Appears in
    Presumed MIDD
    Condition/keywords
    MIDD, Maternally Inherited Diabetes and Deafness, Macular Dystrophy, Mitochondrial Disorder
    Photographer
    Grace Melton and Carley Gunn
    Imaging device
    Optical coherence tomography system
    Zeiss Cirrus
    Description
    OCT shows mild RPE deposit inferiorly (corresponds to area of FA blockage and HyperAF) and a focal area of iRORA with loss of EZ more superiorly (possibly due to regression of RPE deposit). No choroidal thickening (like in pachychoroid pigment epitheliopathy or cscr) 57 yo WF referred for AMD vs Pattern Dystrophy that was diagnosed 10 years ago. Reported some slow progressive vision loss in both eyes for distance and near. Denies nyctalopia or hemeralopia. Background medical history includes HTN, CVD, and DM. No family history of eye problems. Denied pentosan use. Anterior segment showed moderate cataracts (OD>OS). Posterior segment exam showed macular changes and mild NPDR. The macular appearance showed a symmetrical, paramacular ring of fleck-like drusenoid material with some faint focal areas of RPE hyperplasia. Fundus Photos, AF, OCT were performed as well as a gene test. Further questioning showed revealed that her mother and maternal grandmother had both diabetes mellitus and sensorineural hearing loss. The patient developed diabetes in her teens, and some high frequency hearing loss in her early twenties. She had not had a previous genetic test or diagnosis of MIDD. Gene testing is pending for the mitochondrial component. Invitae's retinal panel, which does not include mitochondrial disorders, only showed a variant of uncertain significance, HMCN1. I discussed this case with Dr. Freund, and it is similar to a the case report : Inoue M, Kiss S, Freund KB. MACULAR PIGMENT RINGS AS THE PRESENTING FINDING OF MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKELIKE EPISODES. Retin Cases Brief Rep. 2015 Fall;9(4):260-4. doi: 10.1097/ICB.0000000000000182. PMID: 26200388.

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