A Case of Frosted Branch Angiitis in the Age of Polymerase Chain Reaction: Diagnostic and Therapeutic Considerations.

To describe a unique case highlighting the limitations and caveats of multiplex polymerase chain reaction (mPCR) in the diagnosis of posterior infectious uveitis, specifically frosted branch angiitis (FBA), we present a case of FBA in which multiple diagnostic modalities, including mPCR, are inconclusive. A thorough literature review was carried out to discuss the validity of mPCR in the setting of posterior infectious uveitis, the theoretical effect of sample dilution, and to explore a management strategy in these difficult cases. It is known that mPCR has high sensitivity and specificity, with a low false negative rate. However, the rate of false negatives appears to increase in cases of FBA, and when samples are diluted. In such cases we suggest empiric treatment be initiated and targeted towards microorganisms most likely to be implicated based on exam and history.

Photodynamic Therapy-Induced Acute Exudative Maculopathy (PAEM): Prevalence, Impact and Management Strategies.

Photodynamic therapy (PDT) has a niche role in treating various choroidal pathologies. PDT-induced acute exudative maculopathy (PAEM) is an uncommon complication of PDT that results in exudative retinal detachment and mild to severe decrease in vision. Successful management strategies include observation, local or systemic corticosteroids, and intravitreal anti-vascular endothelial growth factor (anti-VEGF) injections. Most cases return to visual acuity near baseline. This review summarizes what is known about PAEM to date including etiology, prevalence, management strategies, and outcomes. We conclude that management of PAEM must take into consideration various patient-specific factors. Treatment with corticosteroids or anti-VEGF agents may expedite time to recovery, though lack of randomized controlled trials preclude firm conclusions regarding a standardized approach to managing this complication of PDT.

A Novel Pathogenic Variant in the RDH5 Gene in a Patient with Fundus Albipunctatus and Severe Macular Atrophy.

Purpose: To report a novel 11-cis retinol dehydrogenase gene (RDH5) variant discovered in a 57-year-old male with fundus albipunctatus (FA) complicated by severe macular atrophy. Methods: The patient was evaluated with a complete ophthalmic examination, optical coherence tomography (OCT), color fundus photography, green wavelength fundus autofluorescence, visual field testing, full-field ERG (ffERG), and multifocal ERG (mfERG). Genetic analysis investigating gene variants involved in inherited retinal disorders was performed. Results: The patient presented with a rapid decline in visual acuity and a history of poor night vision. On fundoscopy, he exhibited a phenotype characteristic of FA accompanied by severe macular atrophy bilaterally. Heterozygous variants in the RDH5 gene were identified, including a novel missense variant, c.814_815del (p.Leu272Aspfs ∗ 63), and a known pathogenic nonsense variant, c.160C > T (p.Arg54 ∗ ). Fundus autofluorescence demonstrated bull's eye maculopathy and hyperautofluorescent perifoveal rings bilaterally. OCT showed foveal atrophy of the outer retina and scattered hyper-reflective lesions in the peripheral macula. The ffERG results showed a severely diminished scotopic and photopic response. The mfERG results demonstrated minimal response in the central macula. Conclusions: Fundus albipunctatus is a rare, congenital form of stationary night blindness caused almost exclusively by the RDH5 gene. This patient's clinical presentation, diagnostic studies, and genetic testing confirmed the diagnosis of FA. Additionally, he exhibited severe macular atrophy, not typically found in FA. Two RDH5 gene variants were identified, one of which is the novel variant, c.814_815del (p.Leu272Aspfs ∗ 63). We suggest that this RDH5 genotype may be associated with a more progressive phenotype of FA contributing to macular atrophy.

The role of oral steroids in the treatment of photodynamic therapy-associated exudative maculopathy, a case report and review of the literature.

BACKGROUND: Photodynamic therapy (PDT) is an effective treatment of pachychoroid spectrum disease. PDT can cause a rare complication known as PDT-associated exudative maculopathy (PAEM). Treatments including intravitreal anti-vascular endothelial growth factor (anti-VEGF) medications, local or systemic steroids, and observation have been attempted with variable success to address this complication. METHODS: A thorough literature review was performed using the PubMed database on search terms aimed at treatments of PAEM. These cases were compared with each other and a novel case of PAEM in polypoidal choroidal vasculopathy (PCV) treated with oral prednisone by the authors. RESULTS: Fifteen patients were compared; 11 were treated with anti-VEGF alone or in combination with intravitreal steroid and/or vitrectomy, one was treated with topical steroid, one was observed, one was treated with intravenous methylprednisolone, and one was treated with oral prednisone. The two cases treated with systemic steroids were given adjunctive sub-tenon's triamcinolone acetonide (STTA) after a favorable response was observed. Most cases had anatomic resolution of serous retinal detachment with stability of vision between 16 days and 2 months, with the most rapid resolution occurring in a patient with PCV treated with oral prednisone and STTA. CONCLUSIONS: Reported treatment of PAEM includes intravitreal anti-VEGF agents with or without local or systemic steroids. Oral steroids may be advantageous in cases where there is concern regarding the risk profile of periocular steroids, intravitreal steroids or anti-VEGF agents. However, data describing the various treatments of this rare complication is limited, precluding firm conclusions regarding relative safety and efficacy.

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.

Successful repair of combined tractional and rhegmatogenous retinal detachment with pars plana vitrectomy without scleral buckle in severe Behçet's disease.

Behçet's disease (BD) is a multisystemic, immune-mediated occlusive vasculitis of unknown etiology with a chronic, relapsing remitting course. Ocular involvement is characterized by recurrent nongranulomatous uveitis with necrotizing obliterative vasculitis affecting both the anterior and posterior segments of the eye and often leads to blindness. We describe successful surgical management of a rare case of combined rhegmatogenous retinal detachment (RRD) and tractional retinal detachment (TRD) in a patient with Behçet's disease. A 28-year-old Hispanic women with known Behcet's disease presented with loss of vision of both eyes. She was found to have extensive bilateral necrotizing vasculitis with severe ischemia. Despite aggressive antivascular endothelial growth factor (VEGF) therapy and pan retinal photocoagulation, patient progressed to total blindness from development of combined rhegmatogenous and tractional funnel retinal detachment. Small gauge pars plana vitrectomy (PPV) with silicone oil tamponade was performed for retinal detachment repair (without scleral buckle). Combined RRD and TRD was successfully treated with standard PPV with silicone oil placement without use of scleral buckle. Visual acuity 1 year postoperatively improved from ability to perceive light to 20/400. Combined forms of retinal detachment, a rare development in Behçet's disease may be effectively treated with PPV (without scleral buckling) with favorable visual and anatomic outcomes.

Evaluating the effect of intravitreal triamcinolone-moxifloxacin during cataract surgery on central macular edema in patients with preexisting diabetic retinopathy.

PURPOSE: To evaluate the effect of intravitreal triamcinolone acetonide-moxifloxacin at the time of cataract surgery on central macular edema in patients with preexisting diabetic retinopathy. SETTING: Loma Linda University Eye Institute, California, USA. DESIGN: Retrospective observational clinical study. METHODS: Retrospective chart review included 75 eyes of 64 patients who had cataract surgery between February 2015 and October 2018 performed by 2 surgeons. Intravitreal injection of triamcinolone-moxifloxacin (15 mg/1 mg/mL, 0.2 mL injection with 3.0 mg triamcinolone acetonide and 0.2 mg moxifloxacin) was given at the time of surgery. Visual acuity and central macular thickness (CMT) with optical coherence tomography were recorded at preoperative and postoperative visits. RESULTS: Mean visual acuity (logarithm of the minimum angle of resolution) at 4 to 6 weeks, 6 to 12 weeks, and 12 weeks or more postoperatively was 0.32, 0.35, and 0.43, respectively. Baseline mean CMT of 75 eyes was 294 µm (SD = 72). Mean CMT 4 to 6 weeks postoperatively for 46 eyes decreased from 299 µm (78) to 297 µm (79), with a mean decrease of 2 µm (50) (P = .97). Mean CMT 6 to 12 weeks postoperatively for 34 eyes increased from 317 µm (88) to 344 µm (111), with a mean increase of 26 µm (98) (P = .021). Mean CMT 12 weeks or more for 60 eyes increased from 295 µm (72) to 328 µm (108), with a mean increase of 33 µm (85) (P = .0023). CONCLUSIONS: Triamcinolone acetonide-moxifloxacin maintained stability of postoperative CMT in patients undergoing cataract surgery with preexisting diabetic retinopathy in the short term, with the greatest effect at 4 to 6 weeks postoperatively.

Multimodal imaging in a family with Cockayne syndrome with a novel pathogenic mutation in the ERCC8 gene, and significant phenotypic variability.

BACKGROUND: Cockayne syndrome is a rare autosomal recessive neurodegenerative disorder caused by mutations of either the ERCC6/CSB or ERCC8/CSA genes. Here, we describe two sisters with Cockayne syndrome caused by compound heterozygous mutations in the ERCC8 gene using multimodal imaging. Significant ophthalmic and systemic phenotypic variability is discussed. MATERIALS AND METHODS: Multimodal imaging was performed in two affected sisters and included electroretinography, optical coherence tomography, ultra-wide-field confocal scanning laser ophthalmoscopy, fundus autofluorescence and fluorescein angiography, and magnetic resonance imaging. Genetic analyses were performed on the affected sisters, both parents, and three unaffected siblings. RESULTS: The older sister (Patient 1) had mental retardation, bilateral hearing loss, ataxia, and decreased visual acuity with retinal dystrophy. Radiographic studies revealed microcephaly, cerebral and cerebellar atrophy, ventriculomegaly, and a diffusely thickened skull. Full-field electroretinography waveforms were severely diminished with attenuation of cone and rod responses. The younger sister (Patient 2) had similar clinical features, including ataxia, bilateral hearing loss, and decreased visual acuity with retinal dystrophy. She also had paranoid schizophrenia. Wide-field fundus autofluorescence showed scattered areas of retinal pigment epithelium atrophy, which was different from her sister. Genetic analysis revealed two mutations in the ERCC8 gene shared by the sisters. These include an unreported missense point mutation: p.Thr328Ser:c.983C > G, and another previously reported pathogenic missense mutation: p.Ala205Pro:c.613G > C. Familial testing showed in trans segregation of these mutations with unaffected siblings inheriting one or neither mutation, but not both. CONCLUSION: The clinical presentation and genetic studies confirmed a diagnosis of Cockayne syndrome in both sisters caused by compound heterozygous mutations in the ERCC8 gene on chromosome 10. Multimodal ocular imaging and systemic findings revealed wide phenotypic variability between the affected siblings.

Multimodal Imaging Characteristics of ADRP in a Family with p.Thr58Arg Substituted RHO Mutation.

BACKGROUND: Autosomal dominant retinitis pigmentosa (adRP) is a rare cause of progressive visual impairment in young patients and is frequently a result of RHO gene mutations. p.Thr58Arg rhodopsin mutation leads to misfolding of rhodopsin, subsequent accumulation in the endoplasmic reticulum, and leads to consecutive atrophy of photoreceptor cells through apoptosis. MATERIALS AND METHODS: We describe multimodal imaging findings in a 58-year-old female with adRP due to a c.173 C > G, p.Thr58Arg rhodopsin mutation (confirmed on genotyping), including ultra-wide-field fundus autofluorescence (UWF-FAF), color scanning laser ophthalmoscopy, structural optical coherence tomography (OCT), OCT-angiography (OCT-A), electroretinography (ERG), and visual field testing (HVF). Additionally, we compare the patient's phenotypic findings to those of her offspring, who was also affected by adRP. RESULTS: The 58-year-old female and her son with symptoms of nyctalopia and decreased vision showed macular pigmentary changes in a bull's-eye pattern along with bone spicules in periphery with retinal atrophy. Genotyping confirmed p.Thr58Arg rhodopsin mutation. Wide area of dystrophic retina was noted on UWF-FAF, along with corresponding atrophy of photoreceptor layer on OCT. OCTA revealed complete nonperfusion of the superficial capillary plexus in areas of retinal dystrophy. ERG revealed increased latency and decreased amplitudes; HVF revealed constriction of visual fields consistent with retinal findings. CONCLUSIONS: Multimodal imaging is extremely helpful in delineating the extent of retinal dystrophy and comparable to ERG for monitoring of progress in retinitis pigmentosa. Photoreceptor layer thickness (measured with OCT) strongly correlated with ERG and can be used as a secondary surrogate for monitoring the disease progress.

Rapid neuroadaptation to surgically-induced aniseikonia in a 17-year-old patient with high preoperative anisometropia: A case report.

PURPOSE: To report a case of rapid neuroadaptation to surgically-induced aniseikonia in a 17-year-old with preoperative anisometropia of 9.5 D. OBSERVATIONS: A 17-year-old female with a history of retinopathy of prematurity (ROP) and progressive high myopia with resulting anisometropia secondary to conventional laser photocoagulation in her right eye was found to have diplopia after undergoing cataract surgery in that eye. Other etiologies of diplopia were ruled out and reversal of anisometropia remained the only viable diagnosis. Her diplopia fully resolved without intervention within one month of the surgery. CONCLUSION AND IMPORTANCE: In cases of neuroadaptation to long standing anisometropia, even if that anisometropia develops in infancy, abrupt reversal following surgery can be surprisingly well tolerated.

EFFECT OF PLASMAPHERESIS AND PASSAGE OF ANTI-RETINAL ANTIBODIES THROUGH THE PLACENTA IN A CASE OF NON-PARANEOPLASTIC AUTOIMMUNE RETINOPATHY.

PURPOSE: To present a case of nonparaneoplastic autoimmune retinopathy in association with myasthenia gravis in a young woman, and to report the effect of plasmapheresis as well as passage of antiretinal antibodies through the placenta. METHODS: Case report. RESULTS: A 31-year-old woman presented with a history of myasthenia gravis and rapidly progressive vision loss at the age of 23. Funduscopic appearance and fluorescein angiographic findings on presentation were consistent with an autoimmune retinopathy. Paraneoplastic etiology was ruled out, and antiretinal antibody testing revealed positivity for autoantibodies against GAPDH, aldolase, enolase, arrestin, as well as unnamed 48-kDa and 60-kDa proteins. ARA Western Blot and immunohistochemistry profiles were unchanged by either plasmapheresis therapy or passage of serum through the maternal placenta. However, the patient's 6-month and 8-year-old daughters appeared unaffected. CONCLUSION: This is the first report of nonparaneoplastic autoimmune retinopathy associated with myasthenia gravis, although a strong history of autoimmune disorders is a known risk factor. Our patient's antiretinal antibody panel was unaffected immediately after plasmapheresis treatment. Antibodies to GAPDH and unnamed 38-kDa and 86-kDa proteins were able to pass through the placenta into the fetal circulation, although their effect on the growing fetus is not clear.

Laryngeal mask airway versus endotracheal tube in pediatric adenotonsillectomy.

OBJECTIVES/HYPOTHESIS: Evaluation of safety and postoperative outcomes of the laryngeal mask airway (LMA) during pediatric tonsil surgery compared to use of the endotracheal tube (ETT). STUDY DESIGN: Randomized controlled trial. METHODS: A population-based sample of 117 patients ages 2 to 18 years requiring adenotonsillectomy, adenoidectomy, or tonsillectomy was studied. Evaluation forms covering 36 safety, surgery duration, and patient comfort variables were given to the surgeon, anesthesiologist, and phase I and phase II recovery nurses to collect data on the intra- and postoperative course. A phone survey was conducted 24 hours after surgery. RESULTS: At the α level following Bonferroni correction, LMA showed less coughing or gagging during the anesthesia phase for all surgeries combined (48% for ETT vs. 20% for LMA; χ(2) = 10.153, P = .002), and for ETT nontonsillectomy vs. LMA nontonsillectomy (48% for ETT vs. 3% for LMA; χ(2) = 15.196, P = .000), spontaneous ventilation was used more often in the LMA group when comparing all surgeries (χ(2) = 19.493, P = .000), and when comparing ETT tonsillectomy and LMA tonsillectomy (χ(2) = 11.131, P = .000). CONCLUSIONS: Use of the LMA during pediatric tonsil surgery does not appear to have any major disadvantages compared to use of the ETT. In fact, analysis of safety, comfort, complications, and postoperative problems suggests that LMA may be superior for some outcome variables such as coughing and gagging. Use of spontaneous ventilation is more common among LMA patients, although the significance of this finding is uncertain.