MIDD (Maternally Inherited Diabetes and Deafness) - Right FP

file

File number: 131536

Comments

    Sign in to comment.

    Rating
    Appears in
    Presumed MIDD
    Condition/keywords
    MIDD, Maternally Inherited Diabetes and Deafness, Macular Dystrophy, Mitochondrial Disorder
    Photographer
    Grace Melton and Carley Gunn
    Imaging device
    Fundus camera
    Clarus
    Description
    Both the right and left Eye have fairly symmetrical, extrafoveal drusenoid-like flecks and focal and faint areas of RPE hyperplasia (in addition to mild NPDR and PPA) 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.

    Related files