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

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.

Macular fibrosis in Coats' disease demonstrated by Optical Coherence Tomography Angiography - new data toward pathophysiology.

PURPOSE: To analyze if Segmented Swept-Source Optical Coherence Tomography Angiography (SS OCT-A) can provide additional information on morphology and pathophysiology of macular fibrosis in Coats' patients. METHODS: A consecutive case series of three male patients (5, 7 and 15 years old), with Coats' disease-related macular fibrosis (stage 2b-2 patients, 3b-1 patient). SS OCT-A 3×3 mm macular scans of affected eyes were performed. RESULTS: In all three cases the inner portion of macular fibrosis displayed a dense network of vessels, continuing into deeper layers. This structure was similar to that observed in retinal angiomatous proliferations (RAP). There was associated loss of the foveal avascular zone. In one case we observed evolution of the lesion. CONCLUSION: SS-OCT imaging of macular fibrosis in Coats' disease reveals a distinct intralesional vascular structure with elements resembling RAP, probably developing as a secondary process.

SWEPT-SOURCE OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY ASSESSMENT OF FELLOW EYES IN COATS DISEASE.

PURPOSE: To assess foveal and parafoveal vasculature at superficial capillary plexus (SCP), deep capillary plexus, and choriocapillaris using optical coherence tomography angiography in the fellow eyes of patients with Coats disease. METHODS: Observational and prospective case series. Thirteen patients with unilateral Coats and 14 healthy age- and sex-matched controls were consecutively recruited at Manchester Royal Eye Hospital and the Department of Ophthalmology of San Raffaele Hospital. Both groups underwent complete ophthalmologic examination, including optical coherence tomography angiography (Topcon Corp) 3 mm × 3 mm scans. Images were imported into ImageJ software and binarized; foveal avascular zone area was manually outlined and vessel density analyzed in inner (foveal) and outer (parafoveal) areas of SCP, deep capillary plexus, and choriocapillaris. RESULTS: Fellow eyes disclosed a significant increase in the foveal vessel density of SCP (P = 0.04); in particular, superior and temporal quadrants showed more marked alterations (P = 0.02 and 0.04, respectively). Analysis of foveal avascular zone area revealed a significant enlargement in the SCP (P = 0.04). No correlation was found between fellow eyes and the stage of affected eyes. CONCLUSION: Fellow eyes of Coats patients carry quantitative foveal vascular alterations at SCP. These may represent markers of altered inner blood-retinal barrier, due to a bilateral defect in midcapillary angiogenesis.

Segmented swept source optical coherence tomography angiography assessment of the perifoveal vasculature in patients with X-linked juvenile retinoschisis: a serial case report.

PURPOSE: To describe perifoveal microvascular changes occurring in X-linked juvenile retinoschisis (XLRS) using swept source optical coherence tomography angiography (SS OCTA). PATIENTS AND METHODS: This is a serial case report of three patients. Retrospective data of patients affected by XLRS were collected. Structural optical coherence tomography (OCT) and color fundus photography (CFPh) were carried out with Topcon® OCT 2000 3D OCT as part of the standard care. Two patients were imaged on Topcon Atlantis® SS OCTA and one on Topcon Triton® SS OCTA. SS OCTA images were acquired using the 3 × 3 mm fovea-centered cubes scanning protocol. Analysis of both perifoveal superficial vascular plexus (pSVP) and perifoveal deep vascular plexus (pDVP) was performed by two observers after automated segmentation. RESULTS: Four eyes of three males (mean age 14 ± 3.8 years) were analyzed. All eyes showed foveoschisis on CFPh images. OCT B-scans of three eyes showed schistic cysts in the ganglion cell layer, inner nuclear layer (INL) and outer nuclear layer (ONL); in one eye, cysts were depicted in INL and ONL only. In two eyes, SS OCTA showed abnormal foveal avascular zone (FAZ) shape in the pSVP, and in the other two, FAZ shape was abnormal in both plexuses. In all eyes, retinal vascular abnormalities (ie, microvascular protrusions) were present in pDVP. CONCLUSION: SS OCTA can depict perifoveal microvascular changes in young patients affected by XLRS. In this study, the structural and vascular changes seem to be more evident in the pDVP and may represent a useful biomarker of prognosis.

Swept-Source Optical Coherence Tomography Angiography of Paediatric Macular Diseases.

PURPOSE: To describe the optical coherence tomography (OCT) angiography (OCTA) features of paediatric macular pathologies. METHODS: Retrospective serial case reports of patients who underwent routine clinical examination and OCTA of the posterior pole using both a DRI OCT Atlantis prototype and Triton Swept-Source OCT. When considered necessary, imaging was performed using Optos wide-field imaging or another non-invasive imaging system. The findings were compared with the current literature. RESULTS: Three cases with X-linked retinoschisis, 2 with epiretinal membrane, 1 with Best disease and 2 with Coats disease are fully illustrated. CONCLUSION: OCTA is an effective, non-invasive imaging technique that can offer additional information regarding the morphologies and vascular characteristics of macular lesions in paediatric ophthalmology. Because of the rarity and characteristics of many paediatric macular pathologies, further multi-centric research is required with regard to the utilisation and features of OCTA imaging.

[Orbital cellulitis with concomitant bacteraemia (Stenotrophomonas maltophilia) as a complication of an intraorbital foreign body--a case report and literature review]. / Zapalenie tkanek oczodolu z towarzyszaca mu bakteriemia (Stenotrophomonas maltophilia) jako powiklanie wewnatrzoczodolowego ciala obcego--opis przypadku i przeglad pismiennictwa.

This is a case report of a 53-year-old man, who presented in the Department of Ophthalmology with signs of orbital cellulitis on the right side, which developed over a few days following an injury. Computed tomography revealed inflammatory infiltration of the orbital soft tissues, penetrating to the sella turcica. Orbital swab and blood cultures revealed the presence of Enterobacter and Peptostreptococcus spp. as well as Stenotrophomonas maltophilia, respectively. Review of the literature relevant to the presented case was performed based on the PubMed databasesearch, using the following keywords: intraorbital foreign body, orbital cellulitis, neuroinfection, Stenotrophomonas maltophiia.. Summarizing, the orbital injury-associated infections can be potentially life-threatening, due to the proximity of the anterior cranial fossa. Hence, they require prompt diagnosis and intensive treatment.