Search results (3 results)

  • MIDD (Maternally Inherited Diabetes and Deafness) - Right AF

    Nov 30 2024 by John S. King, MD

    Both right and left eyes have symmetrical ring of mottled hypo/hyper AF around the fovea and disc. The HyperAF areas correspond to RPE deposits on OCT as well as areas of blockage on FA, and drusenoid deposits seen on fundus photos. Disc drusen in right eye present as HyperAF spot 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.

    Photographer: Grace Melton and Carley Gunn

    Imaging device: Clarus

    Condition/keywords: Macular Dystrophy, Maternally Inherited Diabetes and Deafness, MIDD, Mitochondrial Disorder

  • PEHCR (Peripheral Exudative Hemorrhagic Chorioretinopathy)

    May 12 2023 by Niloofar Piri, MD

    Ultrawide fundus photograph of the left eye demonstrating extensive peripheral hemorrhagic exudative detachment in a 79 yo Caucasian female with prior history of non-exudative AMD. Recent diagnosis of Acute myeloid leukemia with low platelet count which might have contributed to the above presentatuon. Please note the temporal subretinal hemorrhage as well as RPE atrophy and hyperplasia in the macula.

    Photographer: Rocio Bentivegna, MD, Saint Louis University; Jessica Maddox, COA, Saint Louis University

    Condition/keywords: peripheral exudative hemorrhagic chorioretinopathy (PEHCR)

  • Relentless Placoid Chorioretinitis

    Jan 22 2021 by Renata Garcia Franco, Md

    20-year-old male with reduction of vision in both eyes, scotoma and metamorphopsia. Widespread multiple chorioretinal lesions with RPE hyperplasia, which appear from posterior pole to peripheral retina.

    Photographer: Fatima Hernandez, Instituto de la Retina del Bajio SC

    Imaging device: Zeiss

    Condition/keywords: chorioretinitis