Unilateral hemi-central retinal artery occlusion as a presenting sign of Susac syndrome.

A young woman presented at our clinic with sudden visual loss in the right eye, recurrent vertigo, and right-sided tinnitus. We performed a complete ophthalmological evaluation. This revealed effects of the condition on the small arterioles of the peripheral retina. Susac syndrome is characterized by the clinical triad of retinal arteriolar occlusions, cochleovestibular manifestations, and encephalopathy (which can be identified by neuroimaging abnormalities). Early diagnosis and immunosuppressive therapy improved the patient's visual acuity and the remission of her other symptoms. Hemi-central retinal artery occlusion is an atypical neuro-ophthalmological finding in this disease. However, its identification as a sign of Susac syndrome may facilitate timely diagnosis and accurate treatment.

Clinical outcomes and significance of postoperative ultrasound biomicroscopy in patients with Boston type 1 keratoprosthesis.

PURPOSE: To determine the clinical outcomes in patients after type 1 Boston keratoprosthesis surgery and the significance of ultrasound biomicroscopy imaging for postoperative follow-up. METHODS: This retrospective analysis included 20 eyes of 19 patients who underwent corneal transplantation with type 1 Boston keratoprosthesis between April 2014 and December 2021. Data on patient demographics, preoperative diagnosis, visual acuity, and postoperative clinical findings were analyzed. RESULTS: Type 1 Boston keratoprosthesis implantation resulted in intermediate- and long-term positive outcomes. However, blindness and other serious complications such as glaucoma, retroprosthetic membrane formation, endophthalmitis, or retinal detachment also occurred. The use of ultrasound biomicroscopy imaging allowed for better evaluation of the back of the titanium plate, anterior segment structures, and the relationship of the prosthesis with surrounding tissues, which provided valuable postoperative information. CONCLUSION: Regular lifetime monitoring and treatment are necessary in patients who undergo Boston type 1 keratoprosthesis implantation for high-risk corneal transplantation. ultrasound biomicroscopy imaging can be a valuable imaging technique for the evaluation of patients with Boston type 1 keratoprosthesis, providing important information on anterior segment anatomy and potential complications. Further studies and consensus on postoperative follow-up protocols are required to optimize the management of patients with Boston type 1 keratoprosthesis.

Comparison of safety and effectiveness of micropulse transscleral cyclophotocoagulation and "slow cook" diode laser transscleral cyclophotocoagulation in patients with refractory open-angle glaucoma.

PURPOSE: This study aimed to compare the safety and effectiveness of intraocular pressure reduction between micropulse transscleral cyclophotocoagulation and "slow cook" transscleral cyclophotocoagulation in patients with refractory primary open-angle glaucoma. METHODS: We included patients with primary open angle glaucoma with at least 12 months of follow-up. We collected and analyzed data on the preoperative characteristics and postoperative outcomes. The primary outcomes were a reduction of ≥20% of the baseline value (criterion A) and/or intraocular pressure between 6 and 21 mmHg (criterion B). RESULTS: We included 128 eyes with primary open-angle glaucoma. The preoperative mean intraocular pressure was 25.53 ± 6.40 and 35.02 ± 12.57 mmHg in the micropulse- and "slow cook" transscleral cyclophotocoagulation groups, respectively (p<0.001). The mean intraocular pressure was reduced significantly to 14.33 ± 3.40 and 15.37 ± 5.85 mmHg in the micropulse- and "slow cook" transscleral cyclophotocoagulation groups at the last follow-up, respectively (p=0.110). The mean intraocular pressure reduction at 12 months was 11.20 ± 11.46 and 19.65 ± 13.22 mmHg in the micropulse- and "slow cook" transscleral cyclophotocoagulation groups, respectively (p<0.001). The median preoperative logMAR visual acuity was 0.52 ± 0.69 and 1.75 ± 1.04 in the micropulse- and "slow cook" transscleral cyclophotocoagulation groups, respectively (p<0.001). The mean visual acuity variation was -0.10 ± 0.35 and -0.074 ± 0.16 in the micropulse- and "slow cook" transscleral cyclophotocoagulation, respectively (p=0.510). Preoperatively, the mean eye drops were 3.44 ± 1.38 and 2.89 ± 0.68 drugs in the micropulse- and "slow cook" transscleral cyclophotocoagulation groups, respectively (p=0.017), but those were 2.06 ± 1.42 and 1.02 ± 1.46 at the end of the study in the "slow cook" and micropulse transscleral cyclophotocoagulation groups, respectively (p<0.001). The success of criterion A was not significant between both groups. Compared with 11 eyes (17.74%) in the "slow cook" transscleral cyclophotocoagulation group, 19 eyes (28.78%) in the micropulse transscleral cyclophotocoagulation group showed complete success (p=0.171). For criterion B, 28 (42.42%) and 2 eyes (3.22%) showed complete success after micropulse- and "slow cook" transscleral cyclophotocoagulation, respectively (p<0.001). CONCLUSION: Both techniques reduced intraocular pressure effectively.

Addressing corneal opacity after herpes zoster infection.

A 15-year-old boy was referred for corneal opacity evaluation. The patient had a previous herpes zoster virus (HZV) infection-varicella-zoster virus (VZV)-with ocular manifestation 1 year ago. After the infection, he developed a central corneal scar and decreased corrected distance visual acuity (CDVA) in the right eye. The slitlamp examination showed the right eye with central corneal opacity (involving anterior stroma), lacuna area between the haze, fluorescein negative, and no vascularization near the scar (Figure 1JOURNAL/jcrs/04.03/02158034-202406000-00019/figure1/v/2024-07-10T174224Z/r/image-tiff). The patient had been treated with oral valacyclovir and topical corticosteroids without any improvement of visual acuity or changes in opacity within the 1-year follow-up. His CDVA was 20/200 (-4.50 -0.75 × 25) in the right eye and counting fingers (-4.00) in the left eye. Intraocular pressure was 12 mm Hg in both eyes. Fundoscopy was normal in the right eye, but he had a macular scar in the left eye (diagnosed when he was 7 years). The left eye had no cornea signs. The patient has no comorbidity or previous surgeries. Considering this case, a corneal central scar in a 15-year-old boy, legally single eye only, and assuming it is an opacity in the anterior stroma, would you consider surgery for this patient? If so, which would you choose: Would you consider an excimer laser treatment of his ametropia while partially removing his opacity, a phototherapeutic keratectomy (PTK), or a PTK followed by a topography-guided treatment, femtosecond laser-assisted anterior lamellar keratoplasty (FALK), or deep anterior lamellar keratoplasty (DALK) or penetrating keratoplasty (depending on the scar depth)? Would you consider prophylactic acyclovir during and after surgery? Would you consider any other surgical step to prevent delayed corneal healing-persistent epithelial defect? Before the surgical approach, would you consider treating this patient with topical losartan (a transforming growth factor [TGF]-ß signaling inhibitor)? Would you first perform the surgery (which one) and then start the medication? Furthermore, if so, how long would you treat this patient? Would you consider treatment with another medication?

Bilateral outer foveal microdefect in a patient with systemic lupus erythematosus using hydroxychloroquine - A case report.

INTRODUCTION: The association of outer foveal microdefect and LES or hydroxychloroquine use has not been established in current literature. CASE REPORT: We present the first reported case of bilateral outer foveal microdefect ina a patient with systemic lúpus erythematosus using hydroxycloroquine. DISCUSSION/CONCLUSION: While it is not possible to definitively attribute the described findings in our patient to HCQ use, it is important to be aware of the possibility that the outer foveal microdefect may be caused by this medication. Therefore, patients on chronic HCQ therapy should be informed about the risk of potential visual adverse effects, so that appropriate interventions can be implemented if necessary.

Efficacy and safety of faricimab for neovascular age-related macular degeneration: a systematic review and network meta-analysis.

OBJECTIVE: To evaluate the efficacy and safety of faricimab compared with other anti-vascular endothelial growth factor (anti-VEGF) agents in treating neovascular age-related macular degeneration (nAMD) patients. METHODS AND ANALYSIS: A systematic review (SR) was conducted up to January 2023. Network meta-analyses (NMA) were performed, including sensitivity and subgroup analyses for naïve population. Outcomes included changes in visual acuity (Early Treatment of Diabetic Retinopathy Study [ETDRS] letters), anatomical changes, frequency of injections and adverse events. The Cochrane Collaboration guidelines and the Confidence in Network Meta-Analysis framework were used for the SR and the certainty of evidence, respectively. RESULTS: From 4128 identified records through electronic databases and complementary searches, 63 randomised controlled trials (RCTs) met the eligibility criteria, with 42 included in the NMA. Faricimab showed a significant reduction in the number of annual injections compared with most fixed and flexible anti-VEGF treatment regimens, while showing no statistically significant differences in visual acuity through ETDRS letter gain, demonstrating a comparable efficacy. Retinal thickness results showed comparable efficacy to other anti-VEGF agents, and inferior only to brolucizumab. Results also showed that more patients treated with faricimab were free from post-treatment retinal fluid compared with aflibercept every 8 weeks, and both ranibizumab and bevacizumab, in the fixed and pro re nata (PRN) assessed schedules. Faricimab showed a comparable safety profile regarding the risk of ocular adverse events and serious ocular adverse events (SOAE), except for the comparison with brolucizumab quarterly, in which faricimab showed a significant reduction for SOAE risk. CONCLUSION: Faricimab showed a comparable clinical benefit in efficacy and safety outcomes, with a reduction in annual injections compared with fixed and flexible anti-VEGF drug regimens, representing a valuable treatment option for nAMD patients. PROSPERO REGISTRATION NUMBER: CRD42023394226.

A new technique to implant intracorneal ring-segments from the perilimbal region: one-year prospective pilot study report.

BACKGROUND: Recently a new surgical technique for intracorneal ring-segments (ICRS) assisted by femtosecond laser (FSL) called ByLimB was developed, involving the creation of the incision from a paralimbic region. This study aims to evaluate the safety and efficacy of the ByLimb technique following one year of follow-up. METHODS: A prospective, single-center study was conducted at the Zaldivar Institute in Buenos Aires, Argentina. Keratoconus patients with indication for ICRS-FSL assisted procedure, operated with the ByLimb technique were included. By using the ByLimb technique, the ICRS are placed without affecting the tunnel's roof, and the end of the ICRS is always away from the incision area. Visual acuity, topographic astigmatism, and the occurrence of complications were evaluated. Safety index was the main outcome and efficacy indes was a complimentary outcome. RESULTS: A total of 17 eyes completed the 12-month follow-up period. The safety index was 1.10 (mean postoperative corrected distance visual acuity (CDVA) in decimal: 0.76/preoperative CDVA: 0.69), while the efficacy index was 0.89 (mean postoperative uncorrected distance visual acuity UDVA in decimal: 0.62/preoperative CDVA: 0.69). Mean preoperative astigmatism was 5.3 ± 2.3, decreasing twelve months after surgery at 2.1 ± 1.2 (p < 0.001). No eye loss lines of vision and no intraoperative complications were observed. During the first month after surgery, an improper positioning of the ICRS based on topographic assessment was detected in five cases. A second procedure was performed, which consisted of opening the incision and introducing a Sinsky hook, through which the ICRS was mobilized and placed in its correct position. No incisional alterations, signs of infection, anterior segment anomalies, or fundus alterations were observed. CONCLUSION: FSL-assisted ICRS implantation through the perilimbal region has demonstrated an adequate safety index one year post-surgery. Additionally, this technique has facilitated accurate realignment of ICRS during secondary surgical interventions within one-month post-surgery. While the current findings are promising, continued follow-up of these cases is warranted.

New Device for the Correction of Aphakia Without Capsular Support.

PURPOSE: This study describes a prototype developed for aphakia without capsular support (AWCS) and its proof of concept. METHODS: This descriptive study used a 3D software to create and analyze virtual prototypes before manufacturing. A nylon-6/nylon-6.6 copolymer filament and a 3D printer were used for prototyping. A device implantation technique was developed using a 23-gauge hypodermic needle. Two opposing markings, 2 mm posterior to the limbus, were made to determine the location of the scleral punctures and the final position of the device. After adequate centralization and positioning of the device, its haptics were cut and cauterized to generate thermal modeling of the extremity and allow the thickening of the tips (flange), serving as an anchoring mechanism to the sclera. The efficacy and adequacy of the technique and device were then evaluated. RESULTS: Vitreous tissue extrusion was not observed during the sclerotomy. The device was well fixed to the sclera; however, adequate IOL stability and centralization still needed to be achieved. The surgeon evaluated the adequacy of all the other devices' characteristics. CONCLUSIONS: The development of a technology prototype for correcting AWCS was possible. Although the proposed prototype met most of the established concept guidelines, the stability of the IOL position remains challenging.

Clinical results with a multifocal intraocular lens with a novel optical design.

BACKGROUND: To evaluate the optical performance and safety of a new multifocal lens with a novel optical design featuring two additional foci (or intensifiers) in patients with cataract and presbyopia. METHODS: In this single-center, non-randomized prospective observational study, 31 patients underwent implantation of the new multifocal IOL between March 2020 and November 2021 at a tertiary clinical center in Buenos Aires and Ramos Mejia, Argentina. Postoperative examinations with emphasis on uncorrected and corrected visual acuity at distance and near and at two different intermediate distances (80 cm and 60 cm) were performed during the 3 postoperative months. RESULTS: Of the 31 patients who underwent implantation of the new IOL, 30 underwent bilateral surgery (61 eyes in total). At 3 months, all 61 eyes had an uncorrected distance visual acuity (UCDVA) of at least 0.15 logMAR; 57 eyes (93%) had an uncorrected distance visual acuity (UCDVA) of 0.1 logMAR and 27 eyes (44%) had an UCDVA of 0.0 logMAR. At 80 cm, 60 eyes (98%) had an uncorrected intermediate visual acuity (UCIVA) of at least 0.1 log MAR and 48 eyes (79%) had an UCIVA of 0.0 logMAR. CONCLUSION: The new multifocal IOL with a novel optical concept (5 foci) showed a wide range of visual acuity especially at intermediate and near distances in patients undergoing cataract surgery. Uncorrected visual acuity was excellent at all tested distances, monocularly and binocularly, spectacle independence and patient satisfaction were high.

Optic Neuritis After COVID-19 Vaccination: A Case Series and a Review of Literature.

BACKGROUND: The coronavirus disease (COVID-19) pandemic broke out in March 2020, causing tremendous damage to public health and more than 6 million deaths. After authorization for the emergency use of COVID-19 vaccines, various adverse events have been reported, including optic neuritis. COVID-19 vaccination was implemented in Taiwan in March 2021. METHODS: We report patients who developed optic neuritis after COVID-19 vaccination at one university-affiliated tertiary hospital, between March 2021 and December 2022. We also provided a literature review of optic neuritis cases after COVID-19 vaccination. RESULTS: Five patients who developed optic neuritis after COVID-19 vaccination have been identified. Four brands of vaccine used were as follows: Moderna, Pfizer-BioNTech, Medigen, and Oxford AstraZeneca. Optic neuritis developed after the first dose of vaccination in 4 patients, whereas in 1 patient, it developed after the second shot. In the 3 patients with poor initial visual acuity, intravenous methylprednisolone pulse therapy achieved substantial improvement. CONCLUSIONS: Optic neuritis is a rare but potentially vision-threatening adverse effect of COVID-19 vaccination. We suggest early diagnosis and treatment to maximize visual outcomes.

Effectiveness and safety of a novel crosslinked hyaluronate canalicular gel occlusive device for dry eye.

PURPOSE: To evaluate the effectiveness and safety of a crosslinked hyaluronate (HA) canalicular filler (Lacrifill Canalicular Gel) compared with a commercially available hydrogel canalicular plug (Form Fit). SETTING: 5 sites in the United States. DESIGN: Prospective, multicenter, controlled, double-masked, randomized 2:1 (filler:plug). METHODS: Adults (≥22 years) with the Schirmer test (with anesthesia) ≤10 mm/5 minutes, presence of corneal staining, ocular surface disease index (OSDI) of ≥23 with ≤3 responses of "not applicable," patent lacrimal drainage system, and bilateral corrected distance visual acuity of 20/40 or better. Filler or plugs were instilled bilaterally in the inferior canaliculi. Primary effectiveness endpoint was noninferiority of the mean within subject change from baseline to month 3 in Schirmer score for patients receiving filler compared with plugs. The key secondary effectiveness endpoint was noninferiority of the proportion of patients with filler achieving improvement from baseline to month 3 in OSDI by a minimal clinically important difference. Additional endpoints included the mean change from baseline to 3 and 6 months in tear meniscus height, OSDI, corneal staining, tear breakup time, and safety. RESULTS: 157 patients were randomized; 99 patients with crosslinked HA filler and 52 patients with hydrogel plugs completed the study. Filler was noninferior to plugs in the mean Schirmer score change from baseline and in the proportion of patients achieving a clinically important improvement in OSDI. CONCLUSIONS: Crosslinked HA filler is a safe, well-tolerated, and effective method to treat dry eye. Clinically and statistically significant improvements in signs and symptoms of dry eye were sustained through 6 months.

Implantable phakic contact lens: vault evaluation 5 years postoperatively.

PURPOSE: To evaluate the stability of the postoperative vault of the implantable phakic contact lens (IPCL) 5 years after implantation. SETTING: Clínica de Ojos Dr. Nano, Olivos, Buenos Aires, Argentina. DESIGN: Retrospective case-series study. METHODS: Myopic patients operated with the IPCL for spherical correction in which preoperative data were compared with different scenarios of postoperative vault at 1, 3, and 5 years postoperatively. The main parameter to be evaluated was the vault obtained 5 years postoperatively. RESULTS: 140 eyes of 72 patients, aged 31.9 ± 2.8 years (21 to 50), were included. Most of the eyes (78.6%) obtained a vault between 250 µm and 750 µm, while in 15% of the eyes, it was less than 250 µm, and 6.4% were greater than 750 µm. The vault evaluated 1, 3, and 5 years postoperatively remained stable. Subcapsular cataracts were detected in 2 eyes, with vault <250 µm. A total of 50 eyes (35.7%) had cysts in the sulcus (5 cases in the group of eyes with vault >750 µm). No changes were detected in relation to intraocular pressure or endothelial cell count. CONCLUSIONS: In eyes implanted with the IPCL over 5 years, it was observed that the vault remained stable over time. The proportion of eyes with cysts was higher in eyes with vaults larger than 750 µm.

Management and Outcomes of Traumatic Cataract During Open Globe Repair.

PURPOSE: To compare outcomes of primary lensectomy (PL) versus no lensectomy (NL) during repair of zone I (involving cornea and limbus) and II (up to 5mm posterior to the limbus) open globe injuries (OGIs) with lens involvement. DESIGN: Retrospective clinical cohort study. METHODS: 107 patients with OGIs involving both blunt and penetrating injury to the lens who presented to Wills Eye Hospital between April 1, 2017 and August 31, 2022 were included. Data from presenting visit was collected including demographic information, time from injury to surgery, visual acuity (VA), intraocular pressure (IOP), injury characteristics, and years since residency graduation of surgeon. VA, IOP, retinal detachment (RD) rate, and endophthalmitis incidence were compared between PL and NL groups at postoperative week 1 (POW1) and postoperative month 1 (POM1). VA, peak IOP, need for further surgeries, and types of additional surgery were compared between the two groups at the final visit. RESULTS: 19 (17.8%) patients underwent PL. Age, sex, and initial VA were similar between groups (all p≥0.05). The PL group had surgery later from the time of injury (6.1±14.6 days vs. 1.3±1.9 days; p=0.010), higher IOP at presentation (12.9±11.6 mmHg vs. 7.7±11.3 mmHg; p=0.046), shorter wounds (2.3±1.4mm vs. 4.7±3.2mm; p=0.003), more frequent lens capsule violation (89.5% vs. 50%; p=0.010), increased likelihood of intraocular foreign bodies (52.6% vs. 17.0%; p=0.004), and were more likely to be operated on by surgeons with ≥ 5 years of experience post-residency (68.4% vs. 28.4%; p<0.001). At POW1, the PL group had significantly better logMAR VA (1.2±0.9 vs. 2.0±1.0; p=0.002), and this continued at POM1 (1.0±0.8 vs. 1.6±1.1; p=0.031) and the final visit (0.4±0.7 vs. 1.0±1.1; p=0.010). The PL group had lower IOP at POW1 (12.4±3.0 mmHg vs. 17.3±8.2 mmHg; p=0.005) than the NL group. There was no difference in RD or endophthalmitis rates between the two groups at POW1 or POM1 (p>0.05 for all). The NL group was more likely to require additional surgery by final follow-up (77.3% vs. 47.4%; p<0.001). In the multivariable analysis, PL had better final VA and decreased need for further surgery (both p<0.05). CONCLUSIONS: In the appropriate circumstance, PL during lens-involving anterior OGI repair may lead to improved patient outcomes.

Influence of lighting on visual performance.

PURPOSE: This review emphasizes the effect of light on visual efficiency, the impact of different lighting focuses, types of lighting, and their influence on vision and productivity. Light sources and standards are intriguing subjects for ophthalmologists. Guidelines regarding the level of lighting influence on visual activities can enhance visual performance.Methods: This article was developed based on literature reviews, with a bibliographic survey conducted in databases such as PubMed, MEDLINE, Web of Science, Embase, LILACS, and SciELO. RESULTS: Provides recommendations for understanding information regarding the influence of lighting on visual performance. CONCLUSION: Proper workplace lighting is crucial for improving visual efficiency, safety, productivity, and worker health. Efficient workplace lighting should avoid light sources directed towards the worker's face, prevent harmful glare, be more intense in the work area, and uniform in the rest of the room. Ophthalmologists should be knowledgeable about and provide guidance on correct lighting to ensure patient comfort and satisfaction with visual correction.

Long-term visual and neurodevelopmental outcomes in children with Congenital Zika Syndrome after undergoing strabismus surgery.

Purpose: To assess long-term visual and neurodevelopmental outcomes in children with congenital Zika syndrome (CZS) after strabismus surgery. Methods: A consecutive sample of five children with CZS who underwent strabismus surgery was enrolled. All children underwent a standardized pre- and postoperative protocol including binocular best-corrected visual acuity (BCVA) using the Teller Acuity Cards II (TAC II), ocular alignment, functional vision using the functional vision developmental milestones test (FVDMT), and neurodevelopmental milestone evaluation using the Bayley Scales of Infant Development-Third Edition (BSID-III). Scores of the FVDMT outcomes considering the child's developmental age based on the BSID-III score were compared with scores from postoperative assessment. Results: Five children with CZS (3 girls, 2 boys) were enrolled with a mean age at baseline (preoperative) of 35.0 ± 0.7 months (range, 34-36 months) and at final assessment of 64.4 ± 0.5 months (range, 64-65 months). Preoperative BCVA was 1.2 ± 0.5 logMAR and at final assessment 0.7 ± 0.1 logMAR. Successful strabismus surgery outcome was maintained in 4/5 (80.0%) of children at final assessment. The children's BSID-III scores showed significant neurodevelopment delay at the initial assessment (corresponding developmental mean age was 4.7 months) and at their final assessment (corresponding developmental mean age was 5.1 months). There was improvement or stability in 34/46 items evaluated in the FVDMT (73.9%) when comparing baseline with 2-year follow-up. Conclusions: Strabismus surgery resulted in long-term ocular alignment in the majority of children with CZS. All the children showed improvement or stability in more than 70.0% of the functional vision items assessed. Visual and neurodevelopmental dysfunction may be related to complex condition and associated disorders seen in CZS including ocular, neurological, and skeletal abnormalities.

Cutting-edge issues in sympathetic ophthalmia approach and six case reports: a T cell-mediated autoimmune response.

Sympathetic ophthalmia is a rare and potentially devastating bilateral diffuse granulomatous panuveitis. It is caused by surgical or non-surgical eye injuries and is an uncommon and serious complication of trauma. It is diagnosed clinically and supported by imaging examinations such as ocular ultrasonography and optical coherence tomography. Its treatment consists of immunosuppressive therapy with steroids and sometimes steroid-sparing drugs, such as cyclosporine, azathioprine, cyclophosphamide, and mycophenolate mofetil. Fast and effective management with systemic immunosuppressive agents allows for disease control and achievement of good visual acuity in the sympathizing eye. By contrast, enucleation should be considered only in situations where the injured eye has no light perception or in the presence of severe trauma. In addition to a bibliographic review of this topic, we report six cases involving different immunosuppressive and surgical treatment modalities.

Determination of progressive endothelial cell loss after posterior chamber phakic intraocular lens implantation.

Comments about endothelial cell loss after posterior chamber phakic intraocular lens are provided, with a particular emphasis on the importance of determining progressive postoperative cell density reduction, excluding that related to surgical trauma.

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.

Chromatic vision and structural assessment in primary congenital glaucoma.

Primary congenital glaucoma is a rare disease that occurs in early birth and can lead to low vision. Evaluating affected children is challenging and there is a lack of studies regarding color vision in pediatric glaucoma patients. This cross-sectional study included 21 eyes of 13 children with primary congenital glaucoma who were assessed using the Farnsworth D-15 test to evaluate color vision discrimination and by spectral domain optical coherence tomography to measure retinal fiber layer thickness. Age, visual acuity, cup-to-disc ratio and spherical equivalent data were also collected. Global and sectional circumpapillary and macular retinal fiber layer thicknesses were measured and compared based on color vision test performance. Four eyes (19%) failed the color vision test with diffuse dyschromatopsia patterns. Only age showed statistical significance in color vision test performance. Global and sectional circumpapillary and macular retinal fiber layer thicknesses were similar between the color test outcomes dyschromatopsia and normal. While the color vision test could play a role in assessing children with primary congenital glaucoma, further studies are needed to correlate it with damage to retinal fiber layer thickness.