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Case Reports
. 2023 Dec 12:13:Doc23.
doi: 10.3205/oc000231. eCollection 2023.

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

Katarzyna Chwiejczak  1   2 , Daniel Byles  3 , Paul Gerry  4 , Hirut Von Lany  3 , Anastasia Tasiopoulou  3   5 , Andrew Hattersley  6   7
Affiliations
Case Reports

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

Katarzyna Chwiejczak et al. GMS Ophthalmol Cases. .

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.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Figure 1
Figure 1. Figure 1
Colour fundus photographs (top row): overall increased translucence of the RPE with visible choroidal vasculature. Area of atrophy in the inferior macula of the right eye is more extensive than in the left eye, where the location is nasal. Also, in the right eye the atrophy is closer to the foveola as compared with the left side. Very few microaneurysms/dot haemorrhages in the macula of both eyes, better visible under magnification (bottom right, arrows). Blue light autofulorescence image (bottom row; right eye: composite of 2 images of the macula and optic disc) clearly shows the extent of the retinal atrophy and reveals the true extent of the retinal pathology with characteristic “salt and pepper” mottled hyper- and hypoautofluoresence beyond vascular arcades and in nasal peripapillary area.
Figure 2
Figure 2. Visual fields: Humphrey 10-2 showing defects consistent with atrophy
Figure 3
Figure 3. OCT scans
Right eye: 1–3 show slices from different levels: 1. foveolar: normal retinal profile, no cystoid macular oedema, but intraretinal hyperreflective foci visible as well as reduced thickness of outer retina and granular irregularity at its level (rectangular frames); 2. superior part of the atrophy: two atrophic areas separated with preserved retina. Extent of RPE atrophy (solid lines) is larger than outer retinal loss (dashed line); 3. central part of the atrophy: loss of RPE and outer retinal layers. Outer retinal tubulation marked with an arrow. Left eye: 4. nasal area of atrophy with visible hyporeflective wedge (arrowhead). On images 3 and 4 subretinal hyperreflective material is marked with asterisks. Also increased transmission to the choroid is present on the images along atrophic regions.
Figure 4
Figure 4. OCT-A
Superficial plexus: rarefaction in the perifoveal region visible as a darker area surrounding the fovea, in the right eye also in the inferior fovea and in the left eye in nasal macula (red circle) in the location of atrophy. Deep plexus: transmission (right eye) and projection (left eye) artifacts in the area of atrophy (blue circle). Choriocapillaris: thinning with increased transmission form the deep choroid in the area of atrophy (green circle) as well as outside (orange circle). RE=right eye; LE=left eye
Figure 5
Figure 5. Electrophysiology results
a: delay of the P100 wave for small check size; b: full field ERG: low amplitude scotopic B waves; c: 30 Hz flicker: an increased implicit time/latency; d: single cone flash: increase latency and reduced amplitude; e: multifocal ERG: reduced responses, with no foveal peak on the right and only a small one on the left
Figure 6
Figure 6. Ganglion cell and internal plexiform layer change during the observation period showing thinning in both eyes
See this image and copyright information in PMC

References

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