Novel heterozygous PRPH2 variant identified in a patient with spinocerebellar ataxia type 14 and macular dystrophy.

PURPOSE: To report on a patient with spinocerebellar ataxia type 14 (SCA14) and macular dystrophy with identification of a novel PRPH2 variant. METHODS: Case report. RESULTS: A 63-year-old female with molecularly confirmed SCA14 presented with symmetric pigmentary disturbances in a perifoveal distribution resembling a pattern macular dystrophy. She had no history of using medications with recognized toxic macular effects. Subsequent genetic testing confirmed a novel heterozygous missense variant of unknown significance in PRPH2 (PRPH2: c.694 G>A, p.(Ala232Thr)). CONCLUSIONS: To our knowledge, this is the first case of macular dystrophy identified in a patient with SCA14. While it is possible that the macular dystrophy observed in this patient might be an under-reported phenotype associated with SCA14, the pattern of macular changes is consistent with PRPH2-related disorders. The identified missense variant is predicted to be damaging by most in silico models, and the residue is highly conserved, adding support to a dual genetic diagnosis in this case.

Effect of Macular Internal Limiting Membrane Peeling on Single Surgery Success Rates of Vitrectomy for Uncomplicated, Primary Macula-Off Retinal Detachment.

Purpose: To determine the anatomic and visual outcomes of pars plana vitrectomy for uncomplicated, primary macula-off rhegmatogenous retinal detachment (RRD) with and without internal limiting membrane (ILM) peeling. Methods: This retrospective chart review comprised 129 patients with uncomplicated, primary macula-off RRD presenting between January 1, 2016, and May 31, 2021. Thirty-six patients (27.9%) had ILM peeling and 93 (72.0%) did not. The primary outcome was the rate of recurrent RRD. Secondary outcomes included preoperative and postoperative best-corrected visual acuity (BCVA), epiretinal membrane (ERM) formation, and macular thickness. Results: No significant difference was found in the risk for recurrent RRD between patients who had ILM peeling and those who did not (2.8% [1/36] and 5.4% [5/93], respectively) (P = 1.00). The final postoperative BCVA was better in eyes that did not have ILM peeling (P< .001). No ERM occurred in the group with ILM peeling, whereas ERM occurred in 27 patients (29.0%) who did not have ILM peeling. The temporal macular retina was thinner in eyes in which ILM peeling was performed. Conclusions: The risk for recurrent RRD was not statistically lower in eyes having ILM peeling of the macula in uncomplicated, primary macula-off RRD. Despite a reduction in postoperative ERM formation, eyes having macular ILM peeling had worse postoperative VA.

PHACOVITRECTOMY FOR PRIMARY RHEGMATOGENOUS RETINAL DETACHMENT REPAIR: A Retrospective Review.

PURPOSE: To analyze the single surgery success rate and anterior segment complications related to phacoemulsification and intraocular lens implantation in a series of patients undergoing phacovitrectomy for all types of primary rhegmatogenous retinal detachment. METHODS: We performed a retrospective interventional case series on 302 eyes undergoing phacovitrectomy for primary rhegmatogenous retinal detachment repair between November 1, 2016, and February 2, 2019, in Edmonton, Canada. Primary outcomes included single surgery retinal reattachment rate and anterior segment complications. Secondary outcomes included the effects of proliferative vitreoretinopathy and macula and/or peripheral internal limiting membrane peeling on the rate of surgical success. RESULTS: The single surgery success rate of phacovitrectomy for all types of primary rhegmatogenous retinal detachment was 85.1%. The presence of proliferative vitreoretinopathy was associated with lower surgical success (odds ratio, 0.33; P = 0.01). Macular internal limiting membrane peeling was associated with higher surgical success (odds ratio, 2.4; P = 0.05). Anterior segment complications included posterior capsular opacification (28.8%), posterior synechiae (10.9%), and posterior capsular rupture (2.3%). CONCLUSION: Phacovitrectomy is a safe and effective treatment option for the primary repair of rhegmatogenous retinal detachments. This study provides evidence to support the safe incorporation of phacoemulsification and intraocular lens implantation with retinal surgery.

Scleral-Sutured Intraocular Lens Dislocations Secondary to Eyelet Fractures.

OBJECTIVE: To report clinical features and visual outcomes following eyelet fractures of scleral-sutured enVista MX60 (Bausch + Lomb) intraocular lenses (IOL). DESIGN: Retrospective, multi-center, multi-surgeon, observational case series. METHODS: Study Population: Patients with scleral-sutured enVista MX60 IOLs that experienced either an intraoperative or post-operative eyelet fracture associated with dislocation or subluxation. PROCEDURES: All records were reviewed for patients with a dislocated or subluxed scleral-sutured enVista MX60 IOL. Clinical features and outcomes were gathered. Main Outcome Measures: Clinical setting, surgical technique, complications, and visual acuity. RESULTS: A total of 25 scleral-sutured enVista MX60 IOLs displacements secondary to eyelet fractures in 23 eyes of 23 patients were included. There were 20 IOLs that sustained a postoperative fracture and 5 IOLs that sustained an intraoperative fracture. Of the postoperative fractures, 7 were dislocated and 13 were subluxed. Gore-Tex was the suture of choice for 19 of the postoperative fractures and all 5 of the intraoperative fractures, and Prolene was used for 1 postoperative fracture. The mean time until postoperative fracture was 96 ± 125 days, and the median time was 61 (IQR 48-144) days. Of the postoperative fractures, new MX60s were sutured in 10 patients, and 2 of them experienced repeat displacements due to a new eyelet fracture. In the intraoperative fracture group, new MX60s were sutured in 4 patients and an Akreos AO60 lens was placed in the 5th patient. The mean preoperative best-corrected logMAR visual acuity for all patients improved from 1.2 ± 0.8 (20/317 Snellen equivalent) to 0.5 ± 0.5 (20/63 Snellen equivalent) at most recent follow-up after lens replacement. CONCLUSIONS: Scleral-sutured MX60 intraocular lenses can experience intraoperative or postoperative eyelet fractures, resulting in lens subluxation or dislocation. Surgeons should be aware of this complication when evaluating secondary intraocular lens options.

Patient Comfort with Yellow (577 nm) vs. Green (532 nm) Laser Panretinal Photocoagulation for Proliferative Diabetic Retinopathy.

PURPOSE: Pain associated with panretinal photocoagulation (PRP) can adversely affect the number and quality of retinal burns delivered and subsequently increase the number of treatment sessions required to achieve regression of proliferative diabetic retinopathy (PDR). We assessed comfort in patients undergoing treatment with yellow (577 nm) vs. green (532 nm) PRP for PDR. DESIGN: Prospective, single-center, randomized crossover clinical trial. SUBJECTS: Patients with PDR with high-risk characteristics. METHODS: Subjects were equally randomized to first receive PRP with a laser indirect ophthalmoscope with either green (IQ 532; IRIDEX, Mountain View, CA) or yellow (IQ 577; IRIDEX) laser, followed by additional treatment with the opposite laser using standardized settings in the superior hemisphere of a single treatment eye per patient. Topical anesthetic was used in all study eyes before each treatment and power was titrated until moderate grey-white retinal burns were achieved. MAIN OUTCOME MEASURES: The primary outcome measure was patient's perceived pain as measured with a standardized 10-point pain scale. Secondary outcome measures included laser power, treatment time, number of treatment shots with each laser, and physician ease-of-use score with each laser on a 10-point scale. RESULTS: Forty patients (40 eyes) with a mean age of 54.0 years were enrolled. Mean pain scores were similar when comparing treatment with yellow and green laser (3.1 ± 2.3 vs. 2.8 ± 2.6; P = 0.40). No significant difference was seen in visual acuity (P = 0.44) or central macular thickness (P = 0.39) 1 month after PRP. Additionally, there were no significant differences when comparing minimum power required (243.2 ± 74.2 vs. 234.0 ± 59.6 mW; P = 0.55), treatment time (5.1 ± 3.6 vs. 5.6 ± 3.9 minutes; P = 0.384), and number of treatment shots (257.6 ± 12.6 vs. 258.0 ± 2.3; P = 0.68). Six of 7 co-investigators (85%) preferred using yellow laser over green and reported ease-of-use scores of 9.0 ± 1.2 and 7.6 ± 1.4, respectively (P = 0.07). No severe adverse events occurred. CONCLUSIONS: Patient comfort during PRP for PDR utilizing laser indirect ophthalmoscopy is similar for green and yellow wavelengths.

BILATERAL OCCIPITAL POLE HYPERTENSIVE STROKE DIAGNOSED WITH MACULAR INTEGRITY ASSESSMENT (MAIA) MICROPERIMETRY.

PURPOSE: To describe the utility of microperimetry testing in the diagnosis of a bilateral occipital stroke. METHODS: Retrospective case report. RESULTS: A 57-year-old male with hypertension presented with complaints of bilateral blurred central vision and bilateral hypertensive retinopathy with cotton-wool spots. Automated perimetry demonstrated a central scotoma in both eyes that did not respect the vertical midline; however, microperimetry testing revealed a bilateral homonymous hemianopia that suggested cerebrovascular disease which was subsequently confirmed with magnetic resonance imaging. DISCUSSION: In cases of unexplained central visual loss, microperimetry testing may be a useful ancillary test for the diagnosis of cerebrovascular disease.

Cataract surgery and age-related macular degeneration.

PURPOSE OF REVIEW: The following review describes the recent evidence regarding the effect of cataract surgery on age-related macular degeneration (AMD). RECENT FINDINGS: For patients with both visually significant cataracts and AMD, recent evidence supports the role of cataract surgery with reports demonstrating improved visual acuity, absence of significant disease progression, and improved quality of life. SUMMARY: Recent evidence does not find cataract surgery to cause or worsen AMD.

HEMORRHAGIC OCCLUSIVE RETINAL VASCULITIS AND NONHEMORRHAGIC VASCULITIS AFTER UNCOMPLICATED CATARACT SURGERY WITH INTRACAMERAL VANCOMYCIN.

PURPOSE: To describe two cases of vasculitis: one hemorrhagic and one nonhemorrhagic after uncomplicated cataract surgery with intracameral vancomycin. METHODS: Retrospective case series. RESULTS: A 74-year-old female and a 54-year-old female developed severe visual loss within 2 weeks of uncomplicated cataract surgery with intracameral vancomycin. The first patient developed a fulminant hemorrhagic vasculitis, whereas the second patient developed a less severe nonhemorrhagic vasculitis. Partial visual recovery and prevention of neovascular glaucoma was achieved using a combination of topical, oral, and intravitreal corticosteroids, along with intravitreal antivascular endothelial growth factor agents in the first patient and a combination of topical and oral corticosteroids alone in the second patient. CONCLUSION: Hemorrhagic occlusive retinal vasculitis and nonhemorrhagic vasculitis after uncomplicated cataract surgery with intracameral vancomycin have been rarely reported. Early recognition and treatment may prevent devastating visual outcomes.