Deleterious 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.

BackgroundWe 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).MethodsPatients 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.ResultsA 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.ConclusionDietary 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.

With more and more microsurgical implantation procedures, clinicians should be well aware of these unusual although rare complications. Even though the desegmented implants do not appear to cause more intraocular complications compared with single-piece implants, patients with defragmented implants should be followed up carefully to monitor for unexpected complications.

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In this family, a structural NLRP3 mutation was associated with classic MuckleWells features of different degrees of severity. Interstitial keratitis with corneal opacification, usually ascribed to neonatal-onset multisystem inflammatory disease, was found. We underscore that ocular involvement in MuckleWells syndrome should be carefully assessed, since it can lead to visual impairment.

This report describes a case of unilateral pigmented paravenous retinochoroidal atrophy (PPRCA) in a patient with low-grade unilateral intermediate uveitis. A 31-year-old woman, previously diagnosed with intermediate uveitis in the right eye (OD) presented to the clinic. Best-corrected visual acuity was 20/20 OD. Fundus examination, fluorescein angiography, autofluorescence, and optical coherence tomography OD were in keeping with a phenotypic diagnosis of PPRCA. Electrophysiology showed severe photoreceptor dysfunction of both the rod and the cone systems OD. Systemic workup revealed QuantiFERON-gold positive. This is the first report of unilateral PPRCA secondary to presumed ocular tuberculosis. [Ophthalmic Surg Lasers Imaging Retina. 2017;48:345-349.].

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Purpose: 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). Methods: 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. Results: In asymptomatic eyes, only the SCP showed significant changes on average (B coefficient = À0.72, 95% CI = À1.34 to À0.10, p = 0.022) or in sectors representing the papillomacular bundle (PMB) (B coefficient = À1.17, 95% CI = À2.23 to À0.11, p = 0.031). However, in chronic eyes, the greatest magnitude of change was found in the temporal sector of the RPCP (B coefficient = À12.36, 95% CI = À14.49 to À10.23, p < 0.001). The RPCP showed the strongest correlations with visual acuity (VA, logarithm of the minimum angle of resolution; R = À0.677, p < 0.001) and structural parameters (R = 0.747, p < 0.001). Conclusions: 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.