We assessed the impact of a dietary supplement based on the combination of omega-3 essential fatty acids and antioxidants on health-related quality of life in patients with meibomian gland dysfunction (MGD).Patients of either sex (aged 18-85 years) diagnosed with MGD according to criteria identified at a 2011 International Workshop on Meibomian Gland Dysfunction participated in this randomized, double-masked, placebo-controlled study. Group A patients (controls) received an oral placebo supplement and group B patients received the oral study supplement (Brudysec(®) 1.5 g; Brudy Laboratories, Barcelona, Spain). At baseline and at 3-month follow-up, the patients completed the 36-Item Short Form Health Survey questionnaire using a Spanish validated version. The Physical (PCS) and Mental (MCS) Component Summary scores were the main outcome variables.A total of 61 patients completed the study (group A, n=31; group B, n=30). There were no significant differences in PCS and MCS scores at baseline between the two study groups, but after 3 months of treatment, significantly higher mean PCS and MSC scores were observed in patients treated with the active omega-3 dietary supplement as compared with controls (mean [standard deviation] PCS score 53.33±5.57 versus 47.46±7.31, P=0.008; mean MCS score 54.60±5.64 versus 47.80±8.45, P=0.0005). Moreover, mean differences between values at 3 months as compared with baseline were statistically significant for patients in group B (PCS score 7.14±5.81, 95% confidence interval 4.97-9.31, P=0.000; MCS score 5.96±7.64, 95% confidence interval 3.10-8.81, P=0.0002), whereas mean differences in patients assigned to group A were not statistically significant.Dietary supplementation with a combination of omega-3 essential fatty acids and antioxidants had a significant beneficial effect on HRQoL (health-related quality of life) in patients with MGD.
To investigate the macular and circumpapillary retinal microvasculature across all stages of Leber hereditary optic neuropathy (LHON) using swept source optical coherence tomography angiography (OCTA).This prospective, multicentre, cross-sectional, observational study analysed a total of 119 eyes of 60 patients with molecularly confirmed LHON across all stages and 120 eyes of 60 control subjects. Optical coherence tomography angiography maps centred on the fovea and optic disc were obtained to measure vessel densities (VDs) in the macular superficial (SCP) and deep (DCP) capillary plexuses, and the radial peripapillary capillary plexus (RPCP) respectively.In asymptomatic eyes, only the SCP showed significant changes on average (B coefficient = -0.72, 95% CI = -1.34 to -0.10, p = 0.022) or in sectors representing the papillomacular bundle (PMB) (B coefficient = -1.17, 95% CI = -2.23 to -0.11, p = 0.031). However, in chronic eyes, the greatest magnitude of change was found in the temporal sector of the RPCP (B coefficient = -12.36, 95% CI = -14.49 to -10.23, p < 0.001). The RPCP showed the strongest correlations with visual acuity (VA, logarithm of the minimum angle of resolution; R = -0.677, p < 0.001) and structural parameters (R = 0.747, p < 0.001).Retinal VD changes in the circumpapillary region of the PMB appear later than in the macula but end up being more profound and correlate better with VA and structural parameters. Further studies are needed to assess the clinical utility of retinal VDs as potential LHON biomarkers.
Retinitis pigmentosa (RP) is the most common form of inherited retinal dystrophy, with a worldwide prevalence of 1 in 4000 persons. While in most cases of RP, the disease is limited to the eye (non-syndromic), over 40 forms of syndromic RP have been described.To identify the genetic basis for syndromic RP in three unrelated families from Israel and Spain.Whole exome sequencing was conducted in one Israeli and two Spanish families segregating autosomal recessive RP with intellectual disability. Complete ophthalmic examination included best-corrected visual acuity, funduscopy, optical coherence tomography, fluorescein angiography, flash visual evoked potentials, and electroretinography. Reverse transcription (RT)-PCR and immunostaining were used to examine the spatial and temporal expression pattern of SCAPER.In all patients, biallelic SCAPER mutations were observed. Clinically, patients with SCAPER mutations show signs of typical RP. In addition, they have mild to moderate intellectual disability and attention-deficit/hyperactivity disorder. SCAPER was found to be ubiquitously expressed in a wide range of human tissues, including retina and brain. Furthermore, RT-PCR analysis revealed that in both mouse eye and brain, Scaper is expressed as early as embryonic day 14. In the mouse retina, SCAPER is located in multiple layers, including the retinal pigment epithelium, photoreceptor outer and inner segments, the inner plexiform layer and the ganglion cell layer.Deleterious SCAPER mutations were identified in four patients from three unrelated families of different ethnic backgrounds, thereby confirming the involvement of this gene in the aetiology of autosomal recessive syndromic RP.
Abstract: Inner nuclear layer (INL) microcysts have been reported in diseases affecting the optic nerve. The new ocular imaging techniques detect minimal structural alterations at the macula and correlate these findings to different etiologies with less invasive procedures. The relationship between ganglion cells distribution at the macula and chiasmal nerve fibers enables the diagnosis and location of neurological lesions by new generation optical coherence tomography (SD-OCT) imaging devices. We report the evaluation of a patient with a history of optic nerve trauma and macular INL microcysts with multicolor SD-OCT technology that shows a pattern that localizes the lesion to the left optic nerve and proximal segment of the chiasm.
Macular holes in children are generally associated with trauma. We report the first case of an idiopathic full thickness macular hole in a 10-year-old girl. 23-gauge transconjunctival pars plana vitrectomy, induction of a posterior vitreous detachment, ILM blue-assisted internal limiting membrane peel, fluid–air exchange and air-26% sulfur hexafluoride (SF6) exchange was performed with subsequent macular hole closure. This is the first reported case of an idiopathic full thickness macular hole in a child. Treatment with pars plana vitrectomy with peeling of the ILM resulted in significant anatomic and functional improvement.
To review and analyze the epidemiological profile, clinical characteristics and visual outcomes in patients attended for traumatic open globe injury (OGI) at our hospital over a 5-year period.Retrospective chart review study.Retrospective analysis of all patients attended at Fundación Jiménez Díaz University Hospital for OGI between 2011 and 2015. Data from 104 patients including demographics, ocular examination, medical and surgical treatment, visual outcomes, and complications were analyzed.Most patients were male (79.8%) and the median age at the time of injury was 41 years (interquartile range 31.5-58 years). Work-related accidents represent more than half of the cases and their main mechanism was penetrating trauma or foreign body. This type of accident had good prognosis (median final visual acuity in decimal scale 0.8; interquartile range 0.4-1). Falls were the second most common cause of OGI, predominantly affecting senior women (50%), with a high incidence of ocular rupture (50%) and associating a poor visual prognosis (median final visual acuity 0.01; interquartile range 0-0.5). There was a strong correlation (0.75; p < 0.001) between ocular trauma score (OTS) and final best corrected visual acuity.Two different patterns of OGI were identified in our sample. Work-related trauma in young males was the most common form of OGI and was associated with good prognosis. However, falls in senior women were associated with poor prognosis.