Optical coherence tomography findings in patients with alcohol use disorder and their relationship with clinical parameters

Abstract

Purpose: In our study, we aimed to investigate the ganglion cell-inner plexiform layer thickness (GCIPL), retinal nerve fibre layer thickness (RNFL), mean macular volume (MMV), central macular thickness (CMT), mean macular thickness (MMT), and choroidal thickness (CT) values with optical coherence tomography (OCT) in patients who are diagnosed with alcohol use disorder (AUD).

Materials and methods: The study included 43 patients who were diagnosed with AUD, and 43 healthy controls. Detailed biomicroscopic examinations of all the participants, visual acuity, intraocular pressure, anterior and posterior segment examinations, and then, OCT measurements were carried out.

Results: Although the measured values for RNFL in the superior and temporal quadrant are within normal limits, they were slightly higher compared to those in the control group (p values 0.127 and 0.191 for superior quadrant and temporal quadrant, respectively). The CT measurements in all quadrants were higher than the control group; however, these measurements were not statistically significant (p?>?0.05). When the relation between clinical features and OCT findings of the patients were examined, it was determined that the ages of the patients were statistically significantly and inversely correlated with the temporal CT and also the nasal and temporal quadrants of RNFL.

Conclusions: Our study is the first study that examines the retinal GCIPL and CT with OCT in patients who are diagnosed with AUD. In our results, it was determined that there were no statistically significant differences between the participants in terms of OCT parameters. Further studies with larger sampling groups evaluating neurotransmission findings may provide wider results.     

Ocular Complications in Influenza Virus Infection

Purpose: To describe a case series of ocular complications associated with upper respiratory tract infections.

Methods: Four patients aged 21–61 years (three females, one male) had confirmed ocular complications connected with a general upper respiratory tract infection with myalgia and fever. Ophthalmological examination, including a visual acuity test, a slit-lamp exam, intraocular pressure measurements, fluorescein and indocyanine green angiography, optical coherence tomography (OCT), and diagnostic tests for influenza were performed in the patients (RT-PCR, HAI).

Results: Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) was diagnosed in three patients and serous macular detachment (SME) in one. Influenza virus infection was confirmed by molecular biological methods (RT-PCR) or the hemagglutination inhibition test (HAI) in two patients. All patients were treated with systemic prednisone.

Conclusion: A coincidence between APMPPE and SME epitheliopathy and influenza virus infection was observed in different months of a given epidemic season.     

Dominant ARL3-related retinitis pigmentosa

Purpose: To clinically and genetically characterise a second family with dominant ARL3-related retinitis pigmentosa due to a specific ARL3 missense variant, p.(Tyr90Cys).

Methods: Clinical examination included optical coherence tomography, electroretinography, and ultra-wide field retinal imaging with autofluorescence. Retrospective data were collected from the registry of inherited retinal diseases at Oslo university hospital. DNA was analysed by whole-exome sequencing and Sanger sequencing. The ARL3 missense variant was visualized in a 3D-protein structure.

Results: The phenotype was non-syndromic retinitis pigmentosa with cataract associated with early onset of decreased central vision and central retinal thinning. Sanger sequencing confirmed the presence of a de novo ARL3 missense variant p.(Tyr90Cys) in the index patient and his affected son. We did not find any other cases with rare ARL3 variants in a cohort of 431 patients with retinitis pigmentosa-like disease. By visualizing Tyr90 in the 3D protein structure, it seems to play an important role in packing of the α/β structure of ADP-ribosylation factor-like 3 (ARL3). When changing Tyr90 to cysteine, we observe a loss of interactions in the core of the α/β structure that is likely to affect folding and stability of ARL3.

Conclusion: Our study confirms that the ARL3 missense variant p.(Tyr90Cys) causes retinitis pigmentosa. In 2016, Strom et al. reported the exact same variant in a mother and two children with RP, labelled ?RP83 in the OMIM database. Now the questionmark can be removed, and ARL3 should be added to the list of genes that may cause non-syndromic dominant retinitis pigmentosa.