Multimodal analysis in symptomatic MIDD-associated retinopathy. A case report and literature review

Katarzyna Chwiejczak; Daniel Byles; Paul Gerry; Hirut Von Lany; Anastasia Tasiopoulou; Andrew Hattersley

doi:10.3205/oc000231

Multimodal analysis in symptomatic MIDD-associated retinopathy. A case report and literature review

GMS Ophthalmol Cases. 2023 Dec 12:13:Doc23. doi: 10.3205/oc000231. eCollection 2023.

Authors

Katarzyna Chwiejczak^{1

2}, Daniel Byles³, Paul Gerry⁴, Hirut Von Lany³, Anastasia Tasiopoulou^{3

5}, Andrew Hattersley^{6

7}

Affiliations

¹ Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, United Kingdom.
² The University of Sydney, Australia.
³ West of England Eye Unit, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom.
⁴ Neurophysiology Department, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom.
⁵ Athens Eye Center, Athens, Greece.
⁶ The MacLeod Diabetes and Endocrine Centre, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom.
⁷ College of Medicine and Health, University of Exeter, United Kingdom.

Abstract

Purpose: To present results of contemporary multimodal ophthalmic imaging in a case of maternally inherited diabetes and deafness (MIDD) and a literature review of MIDD.

Methods: A case of a 47-year-old female with diabetes mellitus, severe insulin resistance, familial lipodystrohy, deafness and increasing problems with vision is reported. A full ophthalmic examination was done, including best corrected visual acuity (BCVA, LogMAR), funduscopy, and imaging studies: optical coherence tomography (OCT), OCT angiography (OCT-A), fundus autofloresence (FAF), visual fields (HVF) 10-2 , electrophysiology (EP) and genetic testing were performed. Literature available on the topic was reviewed.

Results: BCVA was 0.06 LogMAR in the right eye and 0.1 LogMAR in the left. Funduscopy revealed atrophy (AT) and pigmentary changes but no diabetic retinopathy. HVF confirmed corresponding defects. The imaging and diagnostic tests showed the following abnormalities: FAF: hypoautofluoresence in areas of AT and mottled appearance in the macular and peripapillary area; OCT: attenuation of outer retinal layers and retinal pigment epithelium (RPE) in the AT; OCT-A: thinning of the deep capillary plexus and choriocapillaris; EP: abnormalities on full field electroretinogram (ERG), 30 Hz flicker and single cone flash response; multifocal ERG: reduced responses; genetic testing: A-to-G transition mutation at position 3243 of the mitochondrial genome, typical for MIDD. After one year OCT ganglion cell analysis showed loss of thickness.

Conclusions: Genetic testing should be considered in diabetic patients with pigmentary retinopathy. Imaging studies and diagnostic testing showed structural and functional retinal changes, confined to the macula and progressive in nature.

Keywords: OCT; OCT-angiography; diabetes mellitus; fundus autofluorescence; maternally inherited diabetes and deafness; mitochondrial disease; multimodal imaging; noninsulin-dependent diabetes mellitus with deafness; pigmentary retinopathy; retinal ganglion cell layer.

Publication types

Case Reports