Mulibrey Nanism: A Case with Heart Failure.

Mulibrey Nanism is a rare genetic disorder characterized by a variety of systemic manifestations, including cardiac involvement. We report the case of a 26-year-old male who underwent partial pericardiectomy for constrictive pericarditis at age 4 and presented to our cardiology clinic with heart failure symptoms. Examination revealed dysmorphic features characteristic of Mulibrey Nanism such as short stature, macrocephaly, and hypertelorism. Genetic testing identified a homozygous likely pathogenic mutation in the TRIM37 gene. The patient's heart failure was managed through a multidisciplinary approach, involving consultations with various specialties to address and diagnose the syndrome's complex multisystem pathologies. This case underscores the importance of including Mulibrey Nanism in the differential diagnosis of patients with a history of constrictive pericarditis at an early age and dysmorphic features, as well as the necessity of a multidisciplinary approach to manage the diverse manifestations of this rare genetic disorder.

Tamoxifen related chorioretinal structural changes.

PURPOSE: To evaluate the vascular structure of the choroid and each retinal layer in patients with breast cancer on tamoxifen therapy and compare them with healthy subjects. MATERIALS AND METHODS: 124 eyes of 62 patients with breast cancer who were on tamoxifen therapy (group 1) and 80 eyes of 40 healthy controls (group 2) were included in this prospective cohort study. The structure of the choroid was evaluated using enhanced depth imaging spectral-domain optical coherence tomography (EDI-OCT) and choroidal binarisation. Spectral-domain OCT (SD-OCT) was performed to analyse the peripapillary nerve fibre layer thickness (pRNFL) and each retinal layer thickness. A subgroup analysis was performed based on chemotherapy history in Group 1. All parameters were compared between Group 1 and the healthy controls and between the subgroups of Group 1. RESULTS: The subfoveal choroidal thickness and temporal and nasal directions were increased in Group 1 when compared with Group 2 (p < 0.05, each comparison). Choroidal vascularity index was significantly decreased in Group 1 compared with Group 2 (63.15 ± 3.11% and 65.37 ± 4.63%, p < 0.001). There were no significant differences in each retinal layer, pRNFL thickness, and choroid structural parameters between the subgroups of Group 1. CONCLUSIONS: Increased choroidal thickness may be the initial finding of subclinical tamoxifen-induced retinopathy. Patients with breast cancer undergoing tamoxifen therapy may be screened prior to tamoxifen therapy and followed during treatment by SD-OCT.

Assessment of early and long-COVID related retinal neurodegeneration with optical coherence tomography.

PURPOSE: The aim of this study is to investigate short-term and long-term effects of coronovirus 19 disease (COVID-19) at inner and outer retinal layers of patients recovered from COVID-19 with Spectral Domain Optical Coherence Tomography (SD-OCT) and compare these to healthy subjects. METHODS: Twenty-seven patients recovered from COVID-19, and age- and gender-matched 27 healthy controls were included in this study. Macular and peripapillary retinal nerve fiber layer (RNFL), ganglion cell-inner plexiform layer (GCIPL), inner nuclear layer (INL), outer plexiform layer (OPL) and outer nuclear layer (ONL) were analyzed with SD-OCT 1 month (V1 visit) and 12 months (V2 visit) after negative result of reverse transcriptase-polymerase chain reaction test. RESULTS: Macular RNFL thickness in outer ring was thinner at V1 and V2 visits than healthy control (p = 0.049 and p = 0.005). Central and inferonasal quadrants of peripapillary RNFL thicknesses were reduced at V1 and V2 visits compared to controls (p = 0.001 and p = 0.024 for V1 visit; p = 0.001 and p = 0.006 for V2 visit). Thinning in ONL thickness in inner ring was observed at V1 and V2 visits than healthy subjects (p = 0.006 and p = 0.001). CONCLUSION: Subclinical localized changes in macular and peripapillary RNFL and outer nuclear layer were demonstrated in early and 12-months follow-up after COVID-19 recovery.

COVID-19: more than a respiratory virus, an optical coherence tomography study.

PURPOSE: The purpose of this study is to investigate anatomic and morphologic features of inner and outer retinal layers in patients recovered from COVID-19 with Spectral Domain Optical Coherence Tomography (SD-OCT), whether correlate with any symptoms during disease process. METHODS: 32 patients recovered from COVID-19 and age- and gender-matched 36 healthy controls were included in this cross-sectional study. Ganglion cell-inner plexiform layer, macular and peripapiller retinal nerve fiber layer (RNFL), inner nuclear layer (INL), outer nuclear layer (ONL), outer plexiform layer (OPL) and the outer retinal hyperreflective bands including external limiting membrane (ELM), ellipsoid zone (EZ) and interdigitation zone (IZ) were examined with SD-OCT. The differences of each retinal layers thickness among subgroup analysis of ocular pain and headache were also compared. RESULTS: Macular RNFL of inner and outer nasal and outer inferior quadrants were thinner in COVID-19 patients compared to healthy control group (p = 0.046, p = 0.014 and p = 0.016, respectively). Thinning in outer superior quadrant of GCIPL and INL quadrants were detected in patients with headache (p = 0.026 and p = 0.01). Superonasal and inferotemporal sectors of pRNFL were thinner in patients with ocular pain compared to patients without ocular pain (p = 0.024 and p = 0.015). Integrity of EZ, ELM and IZ was evaluated as continuous line and protected on each OCT scans. CONCLUSION: The study demonstrated convincing evidence that SARS-CoV-2 can affect the inner and outer retinal layers, with subclinical localized alterations, particularly in patients with headache and ocular pain symptoms during COVID-19 period.

Effect of Transcatheter Aortic Valve Replacement on Retinal Layer Thickness Measured by Optical Coherence Tomography.

Transcatheter aortic valve replacement (TAVR) is associated with clinically significant cerebral microembolism and cognitive status changes. There are no data on the impact of TAVR on retinal layers. We assessed the influence of TAVR on the retinal nerve fiber layer, ganglion cell complex (GCC), and macular thickness (MT) measured by spectral domain optical coherence tomography (SD-OCT). Elderly patients (n = 50) with severe aortic stenosis undergoing TAVR were included in this study (mean age: 78.5 ± 6.9 years). Retinal nerve fiber layer, GCC, and MT were measured with SD-OCT by an ophthalmologist before and on the first day and in the first month after TAVR. The average MT was significantly increased on the first day after TAVR compared with the basal value (P = .04). Ganglion cell complex thickness was significantly thinner on the first day after TAVR than the basal value in the inner inferior quadrant and outer temporal quadrant of the left eye (P = .03 and .04, respectively). Postoperative changes observed on the first day compared with the preoperative period returned to basal values in the first month. In conclusion, TAVR did not cause permanent changes in retinal layers.

Optical coherence tomography and visual field findings in patients with Friedreich ataxia.

BACKGROUND: To investigate the optical coherence tomography (OCT) and visual field findings in Friedreich ataxia (FRDA). METHODS: Ten eyes of 10 patients with genetically confirmed FRDA were included in this study. Twenty-two eyes of 22 age- and sex-matched volunteers served as controls. All eyes were examined with spectral domain OCT (Retinascan Advanced RS-3000; NIDEK) and Humphrey Field Analyzer (HFA II 750; Zeiss-Humphrey Systems). RESULTS: OCT measurements of the average peripapillary retinal nerve fiber layer (RNFL) thickness, average peripapillary retinal thickness (RT), and foveal RT showed a statistically significant reduction in patients with FRDA (P < 0.0001). There was no statistically significant difference in choroidal thickness. OCT measurements of horizontal cup-to-disc (C/D) ratio, vertical C/D ratio, and average cup area were significantly increased in patients with FRDA. Visual acuity was significantly correlated with age at onset (P = 0.021) and average RNFL value (P = 0.045). There was a significant correlation between foveal thickness and disease duration (P = 0.014). Mean RNFL thickness was significantly correlated with the severity of neurological involvement (P = 0.039). Visual field testing (VFT) revealed a generalized reduction of sensitivity in the patients. CONCLUSION: Patients with FRDA may have a measurable degree of retinal thinning as determined by OCT and a generalized reduction of sensitivity in VFT. Combining structural and functional findings may be used in the follow-up of patients with FRDA.