A case report of retinal dystrophy in patients with PACS1 syndrome.

PACS1 syndrome, also referred to as Schuurs-Hoeijmakers syndrome, is a multisystemic developmental disorder caused by a specific pathogenic variant in the PACS1 (phosphofurin acidic cluster sorting protein 1) gene. Ocular findings in PACS1 syndrome are known to include iris, retina, optic nerve coloboma, myopia, nystagmus, and strabismus. Here, we present the cases of two patients referred to the University of Wisconsin-Madison Department of Ophthalmology and Visual Sciences for ocular evaluation. The first patient is a 14-month-old female who, at 3 months of age, was found to have a depressed rod and cone response on electroretinogram (ERG), consistent with possible retinal dystrophy (RD). This feature has not been previously described in PACS1 syndrome and joins a growing list of calls for expanding the PACS1 phenotype. The second case illustrates a 5-year-old male referred for ocular screening after diagnosing PACS1 syndrome and underwent ERG without abnormal findings. These cases demonstrate the significant variability in the ophthalmic presentation of PACS1 syndrome and the need for early screening. These novel findings may have implications in understanding the mechanism of the PACS1 protein and its role in retinal ciliary phototransduction in photoreceptors.

MFRP variant results in nanophthalmos, retinitis pigmentosa, variability in foveal avascular zone.

BACKGROUND: Membrane frizzled-related protein (MFRP) plays a critical role in ocular development. MFRP mutations are known to cause nanophthalmos and, in some cases, retinitis pigmentosa, foveoschisis, and/or optic nerve head (ONH) drusen. The broad clinical spectrum of MFRP mutations necessitates further investigation of specific genotype-phenotype relationships. MATERIALS AND METHODS: We reviewed ophthalmologic and genetic medical records of two affected siblings and one unaffected sibling. RESULTS: Genetic testing revealed variants MFRP c.855T>A, p.(Cys285*) and MFRP c.1235T>C, p.(Leu412Pro) in trans in the two affected siblings. In both cases, photopic and scotopic responses were markedly reduced on electroretinogram (ERG), with greater decrease in scotopic function. Optical coherence tomography for both siblings revealed non-cystoid thickening. Blunted foveal reflexes were also observed in both siblings. Notably, foveal avascular zone abnormalities were seen on fundus autofluorescence in only one affected sibling. CONCLUSIONS: MFRP-related ocular disease may be underrecognized due to its presentation with high hyperopia and possibly subtle retinal findings. Presence of variants MFRP c.855T>A, p.(Cys285*) and MFRP c.1235T>C, p.(Leu412Pro) in trans resulted in nanophthalmos and retinitis pigmentosa without associated foveoschisis or ONH drusen in our patients, consistent with the incomplete phenotype previously described in Neri et al. Abnormalities in the foveal avascular zone have been noted in other case studies and were inconsistently associated with the variants described here, representing a potential area for future investigation.

Complications of Intra-Arterial tPA for Iatrogenic Branch Retinal Artery Occlusion: A Case Report through Multimodal Imaging and Literature Review.

Background and Objectives: To document, through multimodal imaging, the post-procedural clinical course and visual outcome of a patient who received intra-arterial tissue plasminogen activator (tPA) for acute iatrogenic branch retinal artery occlusion (BRAO), and to review the literature and guidelines regarding the use of tPA for retinal arterial occlusions. Methods: A 28-year-old female patient who sustained an iatrogenic BRAO and subsequently received intra-arterial tPA was followed through her post-interventional course of 3 months with serial exams and multimodal imaging, including color fundus photography, visual field testing, spectral domain optical coherence tomography (SD-OCT), and OCT angiography (OCT-A). Results: A patient with history of left internal cerebral artery (ICA) aneurysm and baseline visual acuity (VA) of 20/20 developed an acutely symptomatic BRAO after undergoing a neuroendovascular procedure and was acutely treated with tPA through the left ophthalmic artery. At two weeks follow-up, a central posterior pole hemorrhage was noted although VA was preserved. A superior altitudinal defect was shown on automated perimetry. VA dropped to 20/50 at 7 weeks follow-up and hyperreflective material deep to the attachment between the posterior hyaloid and the internal limiting membrane (ILM) consistent with hemorrhage was noted on SD-OCT. At 11 weeks follow-up, VA returned to 20/20, SD-OCT revealed a membrane bridging the foveal depression, OCT-A showed decreased vascularity in the inferior macula, and the visual field defect was stable by automated perimetry. Conclusions: Intraocular hemorrhage is a possible complication of intra-arterial tPA administration for BRAO, and a careful analysis of risks, benefits, and goals of this procedure must be considered by both provider and patient before such intervention.

Silicone Scaffold Support Using a Bilayer Dermal Regeneration Matrix Template for Correction of Primary or Recurrent Eyelid Retraction.

PURPOSE: To evaluate the efficacy and safety of a bilayer dermal regenerative matrix for primary or complex/recurrent eyelid retraction. METHODS: Retrospective review of patients undergoing eyelid retraction repair using the bilayer dermal regenerative matrix from 2005 to 2019. Nineteen eyelid surgeries from 15 patients were identified. Collected data included patient demographics, symptoms, preoperative/postoperative lower eyelid position, inferior scleral show, lagophthalmos, etiology of retraction, history of prior retraction surgeries, major/minor complications, and follow-up duration (minimum 6 months). Postoperative measurements were taken at a minimum of 1 week, 3-6 weeks, 2-4 months, and 6 months. RESULTS: Postoperatively, 90% of cases had good improvement of lower eyelid retraction (defined as 1 mm or less below the inferior limbus). Postoperative elevation of the lower eyelid ranged 1-3.5 mm compared with preoperative measurements. When used in the upper eyelid for conjunctival scarring, the implant improved the superior fornix depth. Complications were minimal and included transient conjunctival injection, eyelid edema, and foreign body sensation. No patients requested early removal of the silicone layer due to ocular pain. CONCLUSIONS: The bilayer dermal regeneration matrix template may be considered a reasonable alternative to other spacers to reduce the vertical palpebral fissure and eyelid malposition in primary, complex, or recurrent cases. It also worked well for first-line correction of thyroid retraction, which tend to be more challenging due to globe proptosis. Suboptimal results may have occurred due to active cicatrizing conjunctival disease, or residual negative vector of the cheek and orbit. High cost may be a consideration, and the bilayer dermal regeneration matrix template was not studied directly against hard palate and other spacer materials.

Phacoemulsification in review: Optimization of cataract removal in an in vitro setting.

Phacoemulsification, initially used in the late 1960s, continues to be the standard of care for cataract removal. An animal model was developed so that, in a controlled research setting, all the various machines, handpieces, tips, and settings could be investigated. As a general rule, the higher power, vacuum, and aspiration settings lead to optimally efficient phacoemulsification. In addition, both new phacoemulsification platforms and newly developed devices have been shown to improve efficiency. As a result, we recommend that the integration of these recent developments should be considered in future investigations.

Descemet Membrane Endothelial Keratoplasty Using Tissues From Donors With a History of Radial Keratotomy.

PURPOSE: We report 2 successful cases of Descemet Membrane Endothelial Keratoplasty using transplanted tissues from donors with a history of radial keratotomy (RK). METHODS: Four corneas were obtained from 2 donors with a history of RK. After one successful laboratory practice preparation of Descemet Membrane Endothelial Keratoplasty (DMEK) for each patient, 2 additional donor tissues were prepared for DMEK using the established eye bank protocols. RESULTS: Recipient 1 was a 69-year-old female patient who underwent DMEK 6 hours after eye bank preparation of the graft. The postoperative course was uneventful with a clear, attached graft noted at all postoperative visits. The endothelial cell count of the recipient at 7 months was 1953 cells/mm, and the best-corrected distance visual acuity at 1 year was 20/25 + 2. Recipient 2 was a 79-year-old male patient whose DMEK surgery was performed 18 hours after eye bank preparation of the graft. The postoperative course was notable for a re-bubble with air at postoperative day 4 for a peripheral 30% detachment of the donor tissue. No adverse events were noted, with a clear, attached graft at all postoperative visits. A recipient cell count at 6 months showed 2024 cells/mm, and the best-corrected distance visual acuity at 1 year was 20/20. CONCLUSIONS: Two patients received successful DMEK grafts using tissues from donors with a history of RK. Careful eye bank screening and processing of RK donor tissues has thus far yielded similar outcomes in our recipient patients to what would be expected using tissues from donors without a history of RK.

Optimization of transversal phacoemulsification settings in peristaltic mode using a new transversal ultrasound machine.

PURPOSE: To determine the optimum bottle height, vacuum, aspiration rate, and power settings in the peristaltic mode of the Whitestar Signature Pro machine with Ellips FX tip action (transversal). SETTING: John A. Moran Eye Center Laboratories, University of Utah, Salt Lake City, Utah, USA. DESIGN: Experimental study. METHODS: Porcine lens nuclei were hardened with formalin and cut into 2.0 mm cubes. Lens cubes were emulsified using transversal and fragment removal time (efficiency), and fragment bounces off the tip (chatter) were measured to determine optimum aspiration rate, bottle height, vacuum, and power settings in the peristaltic mode. RESULTS: Efficiency increased in a linear fashion with increasing bottle height and vacuum. The most efficient aspiration rate was 50 mL/min, with 60 mL/min statistically similar. Increasing power increased efficiency up to 90% with increased chatter at 100%. CONCLUSION: The most efficient values for the settings tested were bottle height at 100 cm, vacuum at 600 mm Hg, aspiration rate of 50 or 60 mL/min, and power at 90%.

Optimization and comparison of a 0.7 mm tip with the 0.9 mm tip on an active-fluidics phacoemulsification platform.

PURPOSE: To assess the effect of varying levels of torsional power on phacoemulsification efficiency using an active-fluidics phacoemulsification platform with a 0.7 mm Sonata tip. SETTING: John A. Moran Eye Center Laboratories, University of Utah, Salt Lake City, Utah, USA. DESIGN: Experimental study. METHODS: A 0.7 mm tip was used to emulsify 2.0 mm porcine lenses that had been hardened in formalin. The torsional power was varied from 10% to 100% at intervals of 10%, and efficiency and chatter were recorded. A comparison of the 0.7 mm tip with the 0.9 mm Balanced tip was also performed. Using a torsional power setting of 90% and 100%, the 0.7 mm tip and the 0.9 mm tip efficiency times were recorded. RESULTS: The study showed an increase in efficiency as torsional power increased. The relationship was linear and more efficient up to 90% (R2 = .8025, P = .0005). Chatter was only observed at a torsional power setting of 60%. In addition, a head-to-head comparison of the 0.7 mm tip with the 0.9 mm tip showed that both tips were statistically similar in efficiency times, despite the smaller diameter of the 0.7 mm tip. CONCLUSIONS: The optimum torsional power setting with the Centurion platform in conjunction with the 0.7 mm tip was 90%. The efficiency of the 0.7 mm tip and the 0.9 mm tip was statistically similar.

Investigation of Knowledge and Perception of Tuberculosis Among Hispanics in Utah County, Utah.

This study aimed to assess extent of knowledge and perceptions of TB within the growing Hispanic community of Utah County, Utah, and the need for focused community educational intervention within that demographic. A mixed-method approach was used and included a survey of 166 adult males and females, and two focus groups with Hispanic women. TB was better known for its ability to kill (92.8 %) than for being contagious (64.5 %); while most knew that TB mainly affects the lungs (77.7 %) and is spread through coughing (75.3 %). Few believed that overcrowded living conditions were a risk factor for TB (30.1 %). Many believed that TB could be cured with medicine (75.3 %). And 65.7 % reported they had been tested for TB, and 7 % had been told by a doctor they had TB. Focus group data showed while most had knowledge of major TB symptoms, some had key misperceptions about disease transmission, testing, TB vaccine, and various protective factors. Enhanced education and dissemination of information on TB, to include an emphasis on symptoms, testing, and treatment within this demographic is recommended. A culturally-appropriate intervention should utilize a participatory approach, to include the local health department in partnership with various Hispanic community-based organizations.

Intraocular pressure study using monitored forced-infusion system phacoemulsification technology.

PURPOSE: To optimize phacoemulsification efficiency by varying the intraocular pressure (IOP) using the Centurion Vision System, a monitored forced-infusion system. SETTING: John A. Moran Eye Center Laboratories, University of Utah, Salt Lake City, Utah, USA. DESIGN: Laboratory investigation. METHODS: Porcine lenses were soaked in formalin and divided into 2.0 mm cubes; 0.9 mm balanced tips were used. Intraocular pressure levels were tested from 30 to 110 mm Hg at 10 mm Hg intervals. Vacuum was set at 500 mm Hg, aspiration at 35 mL/min, and torsional power at 60%. Efficiency (time to lens removal) and chatter (number of lens fragment repulsions from the tip) were measured. RESULTS: There was a linear relationship between efficiency and IOP. Increasing IOP led to an increase in efficiency (ie, to a decrease in time necessary to remove the lens fragment) (R(2) = .5769, P = .0176). Chatter correlated with IOP in the range of 30 to 50 mm Hg (R(2) = .4506, P = .0448) and was minimal at higher IOPs. CONCLUSIONS: Increasing IOP in the monitored forced-infusion system improved efficiency. Chatter was also decreased or eliminated with increasing IOP. Additional studies will be required to understand the reasons for these findings. FINANCIAL DISCLOSURE: None of the authors has a financial or proprietary interest in any material or method mentioned.

Comparison of a torsional and a standard tip with a monitored forced infusion phacoemulsification system.

PURPOSE: To compare the relative efficiency and chatter of the 30-degree 0.9 mm Kelman tip (standard tip) and Ozil Intrepid Balanced tip (torsional tip) with identical optimum settings. SETTING: John A. Moran Eye Center Laboratories, University of Utah, Salt Lake City, Utah, USA. DESIGN: Experimental study. METHODS: Porcine nuclei were fixed in formalin and cut into 2.0 mm cubes. Lens cubes were phacoemulsified with standard and torsional tips at 60% and 100% torsional amplitude with 0%, 25%, 50%, 75%, and 100% longitudinal power with monitored forced infusion. Experiments were performed at a constant vacuum, aspiration rate, and intraocular pressure. RESULTS: Linear regression showed increased efficiency with up to 75% longitudinal power at 60% torsional amplitude for both tips (P = .046 standard; P = .0093 torsional). Longitudinal did not significantly increase efficiency at 100% torsional power for either tip. Torsional tips were on average 29% more efficient than standard tips throughout the range tested (P < .0001), and 100% torsional power was on average 45% more efficient than 60% torsional power (P = .0028). Chatter was minimal except at 100% longitudinal power, which was greater than at 75% longitudinal power (P < .0001). At 100% longitudinal power, torsional tips had more chatter than standard tips (at 60% torsional, P < .0001; at 100% torsional, P = .0022). CONCLUSIONS: Increasing up to 75% longitudinal power increased the efficiency at 60% torsional for standard and torsional tips. Torsional tips were more efficient than standard tips. Chatter was generally minimal. Torsional tips showed more chatter than standard tips at 100% longitudinal power. FINANCIAL DISCLOSURE: None of the authors has a financial or proprietary interest in any material or method mentioned.