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Background and purpose: It is challenging to assess patients with blepharospasm (BSP) and hemifacial spasm (HFS) as these patients exhibit a wide range of amplitudes of eyelid movements. In order to quantify these movements, a mathematical algorithm, i.e. Fast Fourier Transform, can be employed to convert the signal from the time domain to the frequency domain. The result of this quantification represents the energy generated during the eyelid movements. In order to objectively assess the therapeutic effects of botulinum toxin (BoNT) in these patients, we evaluated the energy generated by the upper eyelid during spontaneous eyelid movements before and after treatment. Methods: A total of 39 patients with BSP and HFS were evaluated before and 30 days after receiving onabotulinum toxin A injections. A high‐speed camera and micro light‐emitting diodes were used to register the spontaneous eyelid movements. The result of the quantification obtained using Fast Fourier Transform permitted assessment of the activity associated with the eyelid movements. Results: We studied 78 eyelids. The total energy generated during spontaneous eyelid movements was significantly reduced after treatment in the patients with BSP (P = 0.0018) and on the affected side in the patients with HFS (P = 0.0058). Conclusions: The assessment of the energy generated by the upper eyelid during spontaneous eyelid movements enabled us to measure the therapeutic effects of BoNT in patients with these conditions. The use of this system could enable customized and fine adjustments to BoNT doses based on each patient's needs. [ABSTRACT FROM AUTHOR]

It is widely accepted that nonspecific tissue reactivity is a distinct pathophysiological hallmark of allergic diseases, influenced by genetic and environmental factors different from those involved in causing sensitization and allergen response of target organs. This consensus document aims at reviewing procedures currently used for nonspecific provocation of the bronchi, nose and eye and for measuring their responsiveness to nonspecific stimuli. [ABSTRACT FROM AUTHOR]

At times it is difficult to distinguish among the subtypes of chronic allergic conjunctivitis. A prospective study with 134 patients was carried out. Patients were diagnosed with vernal keratoconjunctivitis (VKC), atopic keratoconjunctivitis (AKC) or perennial allergic conjunctivitis (PAC). Demographic information was also collected including, age at symptom onset, sex, history of non-ocular allergy, and history of family allergy. Forty-six percent were diagnosed with VKC, 40% with AKC, 8% with PAC, and 6% were not specifically diagnosed. This distribution information as well as the demographic information collected demonstrates that there are patterns within each subgroup of chronic ocular allergy sufferers. These findings will be helpful in the diagnosing and proper classification of ocular allergic conditions. [ABSTRACT FROM AUTHOR]

Purpose To determine the degree of visual improvement in a homogeneous Brazilian cohort of Leber's Hereditary Optic Neuropathy ( LHON) 11778 receiving 18-24 months of therapy with the quinone EPI-743 Methods Six patients with severe vision loss from LHON were enrolled in an open label clinical trial. Each patient received 400 mg TID of EPI-743. Two patients were treated at the time of conversion, while 4 patients had chronic disease (>5 years). Outcome measures included best corrected visual acuity ( BCVA), retinal nerve fiber layer ( RNFL) thickness as measured by Optical Coherence Tomography and Humphrey Visual Fields ( HVF) mean deviations. Mean deviations were calculated using the HVF algorithm (Stim III) or University of Iowa Visual Field Reading Center Algorithm (Stim V) Results VA declined or stabilized in the first 6 months, then improved gradually for all 6 patients and remained stable for 18-24 months with EPI-743. VF increased marginally in one chronic and both acute patients, while 3 chronic patients remained at baseline. The acute patients showed continued bilateral progression for the first 6 months, consistent with the natural history of LHON. As expected, all eyes showed a decline in RNFL that stabilized after treatment Conclusions VA improvements continued beyond the initial 1 year period to 18-24 months of treatment, including 4 patients who had lost vision over 5 years prior to start of EPI-743. This data is consistent with data from the United States where an EPI-743. [ABSTRACT FROM AUTHOR]

Leber congenital amaurosis (LCA) and early-onset retinal dystrophy (EORD) are severe inherited retinal dystrophy that can cause deep blindness childhood. They represent 5% of all retinal dystrophies in the world population and about 10% in Brazil. Clinical findings and molecular basis of syndromic and nonsyndromic LCA/EORD in a Brazilian sample (152 patients/137 families) were studied. In this population, 15 genes were found to be related to the phenotype, 38 new variants were detected and four new complex alleles were discovered. Among 123 variants found, the most common were CEP290: c.2991+1655A>G, CRB1: p.Cys948Tyr, and RPGRIP1: exon10-18 deletion., (© 2020 Wiley Periodicals LLC.)

Purpose: To study healing of retinal laser lesions in patients undergoing PRP using SD-OCT., Methods: Moderate, light and barely visible retinal burns were produced in patients with proliferative diabetic retinopathy scheduled for PRP using 100-, 20- and 10-ms pulses of 532-nm laser, with retinal spot sizes of 100, 200 and 400 μm. Lesions were measured with OCT at 1 hr, 1 week, 1, 2, 4, 6, 9 and 12 months. OCT imaging was correlated with histology in a separate study in rabbits., Results: Lesions produced by the standard 100-ms exposures exhibited steady scarring, with the damage zone stabilized after 2 months. For 400- and 200-μm spots and 100-ms pulses, the residual scar area at 12 months was approximately 50% of the initial lesion size for moderate, light and barely visible burns. In contrast, lesions produced by shorter exposures demonstrated enhanced restoration of the photoreceptor layer, especially in smaller burns. With 20-ms pulses, the damage zone decreased to 32%, 24% and 20% for moderate, light and barely visible burns of 400 μm, respectively, and down to 12% for barely visible burns of 200 μm. In the 100-μm spots, the residual scar area of the moderate 100-ms burns was 41% of the initial lesion, while barely visible 10-ms burns contracted to 6% of the initial size. Histological observations in rabbits were useful for proper interpretation of the damage zone boundaries in OCT., Conclusions: Traditional photocoagulation parameters (400 μm, 100 ms and moderate burn) result in a stable scar similar in size to the beam diameter. Restoration of the damaged photoreceptor layer in lighter lesions produced by shorter pulses should allow reducing the common side-effects of photocoagulation such as scotomata and scarring., (© 2013 The Authors. Acta Ophthalmologica © 2013 Acta Ophthalmologica Scandinavica Foundation.)

Purpose: The aim of this study was investigate the association between complement Factor H polymorphism (Y402H) and age-related macular degeneration (AMD) in Brazilian patients., Methods: Patients with AMD aged 50 or more and age-matched healthy controls were enrolled in the study. Genomic DNA was isolated from leucocytes of patients and controls; the Y402H polymorphism of complement Factor H gene (CFH) was determined by polymerase chain reaction directed sequencing., Results: The frequency of 1277C allele of Factor H was 56.30% in patients with AMD compared with 36.51% in controls (p-value=0.001). The genotypic distribution differed significantly between the two groups (1277CC 36.98%, 1277CT 38.65% and 1277TT 24.37% for AMD group; 1277CC 13.16%, 1277CT 46.71% and 1277TT 40.13% for controls, p-value=0.001). The odds ratio for patients with AMD carrying only one 1277C allele was 1.36 and for those carrying two 1277C alleles was 4.63, when compared to the control group., Conclusions: These results suggest the Y402H polymorphism of CFH is a risk factor to the development of AMD in Brazilian patients. This is in accordance with findings from the majority of previous study population in Europe and North American.