Posterior microphthalmos with retinal involvement related to MFRP gene: a report of 10 Brazilian patients.

BACKGROUND: To describe the phenotype and genotype of 10 Brazilian patients with variants in MFRP, posterior microphthalmos and retinal findings. METHODS: Complete ophthalmological evaluation was done at 4 different Brazilian centers. Genetic analysis was performed using commercial next generation sequencing panels for inherited retinal disorders. RESULTS: Ages of the patients ranged from 10 to 65 years and visual acuities from 0,05 to no perception of light. All were hyperopes (+4,25 to + 17,50) with a short axial length (14,4 mm to 18 mm). Common posterior segment features, though not present in all, were optic disc drusen (5/10), foveoschisis (5/10) and retinal pigmentary changes (8/10). Isolated patients presented with macular atrophy, serous retinal detachment, and chorioretinal folds. The most common variant in MFRP found in our patients was a deletion in exon 5 (c.498delC; p.Asn267Thrfs *25), present in all except 2 patients. Other variants found were c.523C>T (p.Gln175*), c.298delG (p.Ala100Argfs *37), c.666del (p.Thr223Argfs *83) and the novel variant c.257C>A (p.Ala86Asp). CONCLUSIONS: This is the first report of Brazilian patients with posterior microphthalmos and pathogenic variants in MFRP and the first describe of the variant p.Ala86Asp in literature. Our cases confirm the previously reported phenotype of high hyperopia, optic disc drusen, alterations in foveal architecture, retinal pigmentary changes with loss of photoreceptor function and visual field constriction. Report of such a rare condition is important to increase awareness to the phenotype of posterior microphthalmia with associated retinal conditions.

ASSESSMENT OF SIMULATED SURGICAL DEXTERITY AFTER MODIFIABLE EXTERNAL EXPOSURES AMONG NOVICE VERSUS EXPERIENCED VITREORETINAL SURGEONS.

PURPOSE: To evaluate novice and senior vitreoretinal surgeons after various exposures. Multiple comparisons ranked the importance of these exposures for surgical dexterity based on experience. METHODS: This prospective cohort study included 15 novice and 11 senior vitreoretinal surgeons (<2 and >10 years' practice, respectively). Eyesi-simulator tasks were performed after each exposure. Day 1, placebo, 2.5 mg/kg caffeine, and 5.0 mg/kg caffeine; day 2, placebo, 0.2 mg/kg propranolol, and 0.6 mg/kg propranolol; day 3, baseline simulation, breathalyzer readings of 0.06% to 0.10% and 0.11% to 0.15% blood alcohol concentrations; day 4, baseline simulation, push-up sets with 50% and 85% repetitions maximum; and day 5, 3-hour sleep deprivation. Eyesi-generated score (0-700, worst-best), out-of-tolerance tremor (0-100, best-worst), task completion time (minutes), and intraocular pathway (in millimeters) were measured. RESULTS: Novice surgeons performed worse after caffeine (-29.53, 95% confidence interval [CI]: -57.80 to -1.27, P = 0.041) and alcohol (-51.33, 95% CI: -80.49 to -22.16, P = 0.001) consumption. Alcohol caused longer intraocular instrument movement pathways (212.84 mm, 95% CI: 34.03-391.65 mm, P = 0.02) and greater tremor (7.72, 95% CI: 0.74-14.70, P = 0.003) among novices. Sleep deprivation negatively affected novice performance time (2.57 minutes, 95% CI: 1.09-4.05 minutes, P = 0.001) and tremor (8.62, 95% CI: 0.80-16.45, P = 0.03); however, their speed increased after propranolol (-1.43 minutes, 95% CI: -2.71 to -0.15 minutes, P = 0.029). Senior surgeons' scores deteriorated only following alcohol consumption (-47.36, 95% CI: -80.37 to -14.36, P = 0.005). CONCLUSION: Alcohol compromised all participants despite their expertise level. Experience negated the effects of caffeine, propranolol, exercise, and sleep deprivation on surgical skills.

Prevalence of ocular findings regardless of visual acuity status in older adults from the Brazilian Amazon Region.

Recently, it has been recommended that population-based studies report not only frequencies of vision impairment and blindness but also any ocular abnormalities that might lead an individual to seek for eyecare services. The current study aimed to determine prevalence of ocular findings regardless of visual acuity (VA) status in older adults from the Brazilian Amazon Region. Disturbances were grouped into: Eyelids; Anterior Segment; Posterior Segment; Increased intraocular pressure; and Overall Globe. The presence of an ocular finding was considered positive when any abnormality was noted, regardless of VA. Refractive errors were not considered. A total 2384 eligible persons were enumerated and 2041 (85.6%) examined. The prevalence of ocular disturbances in either eye was 87.0% and was associated with male gender, older age, lower education, and rural residence. Overall, main findings were pterygium, cataract, and pinguecula, occurring in 58.8%, 45.4% and 17.4%, respectively. Among individuals with 20/20 VA in both eyes, the most frequent findings were pterygium, pinguecula, and glaucoma cupping, occurring in 47.4%, 31.2% and 6.5%, respectively. The high prevalence of ocular findings observed in this population reinforces that different conditions might not immediately decrease VA but can indicate risk and/or discomfort symptoms and should be considered when planning public health ophthalmic services.

Electrophysiology in Glaucoma.

OBJECTIVES: Electrophysiological testing of the visual system has been continuously used in studies involving the evaluation of retinal ganglion cells and the diagnosis of glaucoma. This study aims to review the results of recent studies regarding the clinical applicability of electrophysiological tests to glaucoma. METHODS: A systematic review of the literature was carried out by 2 independent reviewers using the PubMed and EMBASE electronic databases, searching for articles published in English from January 1, 2014 to July 1, 2019 using a combination of the following keywords: ("glaucoma" OR "ocular hypertension") AND ("electrophysiolog" OR "electroretinogra" OR "ERG" OR "mfERG" OR "Pattern-reversal electroretinography" OR "PERG" OR "mfPERG" OR "photopic negative response" OR "pattern electroretinogram" OR "visual evoked potential" OR "multifocal electroretinography" OR "multifocal electroretinogram" OR "electro-oculography" OR "multifocal VEP" OR "mf-ERG"). A total of 38 studies were selected and the data of 30 of them were tabulated in this review. RESULTS: Among the 30 studies selected, the photopic negative response and the reversal pattern electroretinogram were found to be the major methods used to record the electroretinographic responses generated by the retinal ganglion cell. Their multifocal versions and the multifocal visual evoked potential were also proposed during this period. In general, the results underscored a consistent but general correlation between the amplitude and latency measures and routine tests for glaucoma, such as perimetry and optical coherence tomography. DISCUSSION: In agreement with previous reviews, clinical electrophysiological testing of the visual system reasonably matched with both the structural and functional analyses for glaucoma. No definitive indications of these tests have been established either at early detection or during follow-up of the disease, and easier protocols and better topographical correspondence with current glaucoma tests are warranted for their routine use.

INTRAVITREAL ZIV-AFLIBERCEPT FOR NEOVASCULAR AGE-RELATED MACULAR DEGENERATION: 52-Week Results.

PURPOSE: To evaluate the 52-week safety and efficacy of intravitreal ziv-aflibercept in patients with neovascular age-related macular degeneration. METHODS: All patients received three monthly intravitreal injections of 0.05 mL of ziv-aflibercept (1.25 mg) followed by a pro re nata regimen. The best-corrected visual acuity and spectral domain optical coherence tomography were obtained at baseline and monthly. Full-field and multifocal electroretinograms were obtained at baseline and 4, 13, 26, and 52 weeks. For some full-field electroretinography parameters, we calculated the differences between baseline and 52 weeks and then compared those differences between treated and untreated fellow eyes. RESULTS: Fifteen patients were included and 14 completed the 52-week follow-up. The mean best-corrected visual acuity improved from 0.95 ± 0.41 (20/200) at baseline to 0.75 ± 0.51 (20/125) logarithm of the minimum angle of resolution at 52 weeks (P = 0.0066). The baseline central retinal thickness decreased from 478.21 ± 153.48 µm to 304.43 ± 98.59 µm (P = 0.0004) at 52 weeks. Full-field electroretinography parameters used to assess retinal toxicity after intravitreal injections (rod response and oscillatory potentials) remained unchanged during follow-up. The average multifocal electroretinography macular response in 5° showed increased N1-P1 amplitude and decreased P1 implicit time (P < 0.05). One patient presented with intraocular inflammation after the seventh intravitreal procedure. CONCLUSION: The results suggested that intravitreal ziv-aflibercept might be safe and effective for treating neovascular age-related macular degeneration. More patients and a longer follow-up are needed to confirm the long-term outcomes of intravitreal ziv-aflibercept.

Vision Status in Older Adults: The Brazilian Amazon Region Eye Survey.

Older adults living in remote areas with limited access to health services are at higher risk to develop visual impairment and blindness. We conducted a population-based survey to determine the vision status in subjects 45 years of age and older from urban and rural areas of Parintins city, Brazilian Amazon Region. Participants underwent ophthalmic examination, including uncorrected (UCVA), presenting (PVA) and best-corrected visual acuity (BCVA). Vision status was described as lines of visual acuity (VA) impairment and lines of VA improvement from UCVA to BCVA and from PVA to BCVA in the better-seeing eye. A total of 2384 subjects were enumerated, 2041 (85.6%) were examined, with reliable VA measurements obtained from 2025 participants. Vision status in lines of VA impairment was (mean ± standard deviation): 3.44 ± 3.53 for UCVA, 2.85 ± 3.52 for PVA and 1.50 ± 3.51 for BCVA. Female gender, older age and lower education were associated with ≥6 lines of UCVA impairment. Lines of improvement ≥3 was found in 626 (30.9%) participants and associated with female gender and rural residency. In conclusion, a third of participants could have at least three lines of VA improvement with proper refraction. Strategies to improve access to eye care and affordable glasses are needed.

Prevalence and outcomes of cataract surgery in Brazil: the São Paulo eye study.

PURPOSE: To investigate the prevalence and visual acuity (VA) outcomes of cataract surgery in a low- to middle-income population in São Paulo, Brazil. DESIGN: Population-based, cross-sectional study. METHODS: Cluster sampling was used in randomly selecting those > or =50 years old for VA measurement, refraction, and ocular examination. Participants were queried as to the year and type of facility for previous cataract surgery. Surgical procedure and evidence of surgical complications were noted. Main outcome measures were presenting and best-corrected vision, and the principal cause for eyes presenting with VA < or =20/40. RESULTS: A total of 4,224 eligible persons were enumerated and 3,678 (87.1%) were examined. The prevalence of cataract surgery was 6.28% (95% confidence interval [CI], 5.29% to 7.27%). Surgical coverage for presenting VA <20/63 in both eyes because of cataract was 61.4%. Unoperated cataract impairment/blindness was associated with older age and lack of schooling. Among the 352 cataract-operated eyes, 41.2% presented with VA >20/40, 28.1% with VA 20/40 to 20/63, 14.2% with VA <20/63 to 20/200, and 16.5% with VA <20/200. With best correction, the percentages were 61.9%, 17.6%, 8.2%, and 12.2%. Intraocular lenses were found in 90.6% of cataract-operated eyes; half appeared to have been operated by phacoemulsification. Refractive error and retinal disorders were the main cause of vision impairment/blindness in operated eyes. CONCLUSIONS: Cataract surgery has increased in São Paulo, but many remain visually impaired/blind because of cataract. Refractive error and other causes of impairment are common in cataract-operated eyes. Emphasis on the quality of VA outcomes and sustained government subsidy to provide access to affordable modern cataract surgery are needed.