Search results (9 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

  • Rod Cone dystrophy

    Nov 29 2022 by Niloofar Piri, MD

    Fundus autofluorescence of the left eye in a 58 yo male with rod cone dystrophy. He presented with night blindness and peripheral vision loss since youth and recent decrease in central vision for the past 10 years. Notice multiple coin shaped hypoautofluorescent pacthes within central 20 degrees which are coalescing centrally. (fundus photo uploaded separately) He has one pathogenic variants of both CEP290 and PRPH2 genes.

    Photographer: Sean Kelso, Saint Louis University

    Condition/keywords: hereditary retinal degeneration, hereditary retinal dystrophy, rod cone dystrophy

  • Extra-scleral Extension of Choroidal Melanoma

    Dec 23 2021 by Jessica Norkus

    89-year-old female with extra-scleral extension of choroidal metastatic melanoma. Patient hadn't been seen by any eye doctor in 3 years prior to this visit. Noticed scleral darkening about 6 months ago, with vision loss noted for about 4-5 months. Presented with LP vision. Emergent MRI of brain/orbit showed no extension beyond what is seen at slit lamp. CT C/A/P w/ contrast ordered and found 2 hepatic lesions, concerning for potential mets. Patient referred to medical oncology.

    Photographer: Jessica Norkus, COA, OSC

    Imaging device: Topcon TRC 50DX

    Condition/keywords: external photography, extrascleral extension, metastatic cancer, metastatic lesion

  • Commotio-Retinae

    Sep 22 2021 by Luiz Guilherme Freitas, MD, MsC, PhD

    Fundus photograph of a 30-year-old male patient with blunt injury to the globe. Commotio retinae is retinal whitening/opacification that results from a blunt injury. The ocular findings will often resolve in a matter of days to weeks. Vision loss can result from commotio involving the posterior pole (historically referred to as Berlin’s edema). Clinical findings of commotio include the characteristic retinal whitening. Commotio may result in significant vision loss that can be transient. Healing can result in pigmentary changes and retinal thinning which may be associated with poor visual recovery if the area of involvement is macular.

    Photographer: Diogo Melo, Santa Luzia Eye Hospital Recife - PE – Brazil

    Condition/keywords: Berlin's edema, blunt trauma, commotio retinae, retinal whitening

  • Optic Nerve Pit Right Eye

    Feb 15 2021 by Kim Barrett

    A 14-year-old male presented with vision loss and VF defect. Patient was treated for presumed amblyopia with patching since age 4. He has had neurologic care for post traumatic skull fracture and brain bleed in 2012. IOP's WNL. OD is without retinoschisis or subretinal fluid. Patient is at risk of serous detachment. Current VA OD 20/200+1 PH 20/80.

    Photographer: Kim Barrett C.O.A. Retina Specialist of Michigan, Grand Rapids, MI

    Imaging device: Optos California

    Condition/keywords: amblyopia, hemifield, Humphrey visual field, nerve, optic nerve pit, visual field defect

  • ICG: Choroidal Aspergilloma With Secondary Choroidal Neovascularization and Exudative Retinal Detachment

    Mar 21 2019 by Scott D Walter, MD, MSc, FASRS

    Multimodal imaging of a transplant patient with disseminated Aspergillosis and vision loss in her left eye.

    Condition/keywords: choroidal neovascular membrane (CNVM), choroidal neovascularization (CNV), exudative detachment, focal chorioretinitis, fungal endophthalmitis, granulomatous choroiditis

  • Chronical Submacular Hemorrhage in the Setting of Neovascular AMD

    Mar 23 2015 by Rita Couceiro, MD, MS

    An 80-year-old male, with a history of hypertension and high cholesterol, complained of acute and painless vision loss in his left eye (OS) in the previous 5 months. On observation best corrected visual acuity in OS was hand motion. A dense vitreous opacity in OS precluded fundus examination. Ocular ultrasound revealed vitreous hemorrhage and thickening of the macular area. The patient was submitted to pars plana vitrectomy, which disclosed a large submacular hemorrhage with chronical features and disciform scarring in the setting of neovascular AMD.

    Imaging device: Intraoperative fundus photograph

    Condition/keywords: neovascular age-related macular degeneration (AMD), submacular hemorrhage, wet age-related macular degeneration (wet AMD)

  • Choroidal Nevus Myelinated Nerve Fiber Layer

    Nov 5 2014 by Raj K. Maturi, MD

    85-year-old woman with severe vision loss in left eye. Recommended observation.

    Photographer: Tom Steele

    Condition/keywords: choroidal nevus, myelinated nerve fiber layer

  • Optic Pit Maculopathy - Fundus Photograph

    Oct 14 2013 by Cagri G Besirli, MD, PhD, FASRS

    10-year-old girl with congenital optic pit and recent vision loss secondary to optic pit maculopathy.

    Imaging device: Optos

    Condition/keywords: fundus photograph, maculopathy