[Painful anisocoria in a five-year-old child: A rare diagnosis which must not be missed]. / Anisocorie douloureuse chez un enfant de cinq ans : un diagnostic rare à ne pas méconnaître.

Congenital ectropion uveae (CEU) is a rare anomaly of the embryonic development of the anterior segment of the eye. We report the case of a 5-year-old child with an undiagnosed CEU who was treated urgently for an acute angle closure attack. CASE DESCRIPTION: A 5-year-old child was referred urgently for evaluation of anisocoria with mydriasis of the right eye and severe headache. Brain imaging with contrast injection was initially performed in the pediatric emergency department and ruled out central nervous system pathology. The initial examination of the right eye revealed an intraocular pressure (IOP) of 37mmHg, corneal edema, congenital ectropion uveae, mydriasis with pupillary block, a closed angle on gonioscopy, and a clear lens. The examination of the left eye was unremarkable, with no visible CEU. The initial management consisted of medical treatment with topical glaucoma drops and miotics and acetazolamide at 10mg/kg/d. Re-evaluation under general anesthesia showed persistent mydriasis and no resolution of the pupillary block. Filtering surgery was performed in the absence of a complete response to medical treatment, allowing control of IOP without drops and complete regression of the corneal edema. DISCUSSION: CEU is a rare malformation, and pressure complications represent an insignificant proportion of pediatric glaucoma cases. The acute presentation of acute angle closure in this potentially blinding short-term setting, however, makes detection and management difficult in very young children in a great deal of pain. Only one similar case has been reported in the pediatric literature. CONCLUSION: Acute angle closure complicating CEU is exceptional and difficult to diagnose in a pediatric context. Parents of children with this predisposing condition should be informed of the need to consult urgently when clinical signs of elevated intraocular pressure appear.

FOCAL RETINAL ISCHEMIA REVEALED BY MULTIMODAL IMAGING AFTER TRAUMATIC PARTIAL OPTIC NERVE AVULSION.

PURPOSE: Traumatic optic neuropathy can have varying presentations. Blunt focal trauma can lead to optic nerve avulsion with underlying retinal findings. A case of partial optic nerve avulsion after finger poke injury leading to focal retinal ischemia is reported. METHODS: Visual acuity, fundus photography with fluorescein angiography, and spectral-domain optical coherence tomography were performed to document the findings in a 16-year-old man who presented after a finger poke injury to the left orbit during a water polo match. RESULTS: On initial presentation, examination revealed decreased visual acuity with a fixed left pupil and afferent pupillary defect by reverse. On slit-lamp examination of the left eye, a hyphema was present. Dilated fundus examination revealed layering vitreous hemorrhage over the posterior pole and an avulsed vitreous base. On follow-up, a gap temporal to the optic nerve head consistent with a partial optic nerve avulsion was noted once the vitreous hemorrhage cleared. Multimodal imaging revealed retinal ischemia temporal to the disc on fluorescein angiography with corresponding changes in the inner retinal layers and retinal nerve fiber layer using spectral-domain optical coherence tomography. CONCLUSION: Clinicians should have a high suspicion for optic nerve avulsion if a patient presents with new vitreous hemorrhage and afferent pupillary defect after a finger-poke injury. Optic nerve avulsion injury can cause retinal ischemia, likely because of interruption of retinal blood flow as a result of nerve shearing injury. Multimodal imaging can reveal focal retinal injury and aid in proper diagnosis and follow-up.

PARACENTRAL ACUTE MIDDLE MACULOPATHY AFTER COVID-19: MULTIMODAL EVALUATION.

PURPOSE: To report the case and multimodal imaging findings of a healthy young woman who developed paracentral acute middle maculopathy 9 weeks after COVID-19. METHODS: Case report. Ultra-widefield fundus photography, macular spectral domain optical coherence tomography, fluorescein angiography, and optical coherence tomography angiography were performed. RESULTS: A 36-year-old woman went to the emergency department with sudden, painless, left eye vision loss. The only relevant medical history was COVID-19 9 weeks before. The best-corrected visual acuity was 20/200, a left eye relative afferent pupillary defect was present, and superficial hemorrhages throughout the macular area and peripheral retina were found. Nearly 4 hours after admission, the left eye best-corrected visual acuity recovered to 20/20 without relative afferent pupillary defect. Five days after presentation in the emergency department, the patient returned with recurrent left eye vision loss, with spontaneous recovery within 12 hours. Macular spectral domain optical coherence tomography revealed hyperreflectivity of the inner plexiform and inner nuclear layers, and the diagnosis of paracentral acute middle maculopathy was established. The patient started oral acetylsalicylic acid and oral prednisolone. The patient did not report any new episodes of vision loss, and there was a progressive resolution of abnormal fundus findings. CONCLUSION: SARS-CoV-2 infection increases the risk of vascular thrombotic events with possible involvement of the retinal circulation, and paracentral acute middle maculopathy may present as a possible complication. Ophthalmologists should be able to recognize it promptly through multimodal imaging findings.

Small Incision Lenticule Extraction in Myopic Eyes With Corectopia After Intraocular Lens Implantation.

ABSTRACT: We present a case of ametropia corrected by small incision lenticule extraction (SMILE) in a corectopia eye after cataract surgery. The patient's optical zone, nomogram, and centration were carefully considered. The intended corrections were -6.60 - 1.25 × 175 OD and -6.85 - 0.50 × 10 OS. M-sized and S-sized cones were recorded in the right and left eye, respectively. The diameter of the right eye optical zone was 7.00 mm, whereas that of the left eye was 6.50 mm. The corneal vertex was determined using the film mark method as the scanning center. Three months after surgery, the uncorrected distance visual acuities were 20/20 OD and 20/13 OS. The effective optical zone was 6.5 and 5.5 mm in the right and left eyes, respectively. It is feasible to correct ametropia with SMILE in patients with corectopia after intraocular lens implantation. The large optical zone will compensate for the visual disturbance.

Development of neovascular glaucoma after intraocular surgery in Pierson syndrome.

Purpose: To report a patient with Pierson syndrome who presented with neovascular glaucoma (NVG) after cataract surgery.Methods: Retrospective case report.Results: A 17-year old monocular female presented with sudden onset of pain and decreased vision in the right eye. On examination, she had intraocular pressure (IOP) of 50 mmHg, aggressive iris neovascularization (NVI) and 3-piece IOL. Fundus examination revealed pale disc with tessellated fundus and parapapillary atrophy. Vascular arcades were vertically stretched with avascular ischemic retina starting from the near periphery. Macula appeared thin and atrophic. An intravitreal injection of 0.05 mg/0.1 ml bevacizumab was given to the right eye followed by Ahmed glaucoma valve (AGV) implantation. Assessment of her brother revealed similar posterior segment changes. A subsequent urine analysis showed proteinuria and high albumin to creatinine ratio. Next-generation sequencing for LAMB2 gene revealed a homozygous c.4573 + 1 G > A variant confirming the diagnosis of Pierson syndrome.Conclusion: This case expands our knowledge on retinal ischemia in the setting of Pierson syndrome. Close monitoring after intraocular surgery is recommended to look for the development of NVG.

Automated Pupillometry as an Adjunct to Clinical Examination in Patients With Acute Vision Loss.

BACKGROUND: Despite automated pupillometry's (AP) improved detection of relative afferent pupillary defects (RAPDs) compared with the Swinging Flashlight Test (SFT), AP remains uncommon in clinical practice. This study examined barriers to routine use of AP in evaluation of acute vision loss. METHODS: (1) Ophthalmologists and optometrists' perceptions of AP were captured via electronic survey. (2) Ophthalmologists were presented with clinical vignettes to assess their use of AP in clinical decision-making. (3) Patients presenting with decreased vision to an ophthalmology urgent care clinic underwent manual SFT and AP screening to evaluate ophthalmologists' perceptions of the device. RESULTS: Surveys indicated that clinicians were "neutral" to "somewhat likely" to use AP. In clinical vignettes, more physicians proceeded with workup for optic nerve pathology when presented with an RAPD by AP than SFT (77% vs 26%, P = 0.003). When SFT and AP results were discordant, more physicians proceeded with workup for optic nerve disease when AP was positive and SFT was negative than vice versa (61% vs 18%, P = 0.008). In the clinical study of 21 patients, 50% of RAPDs detected by AP were not detected by SFT, although ophthalmologists rated AP's usefulness as only "neutral" to "somewhat useful." CONCLUSION: Clinicians value pupillary examination and trust AP over SFT; however, widespread adoption and perceived value of AP may depend on its impact on clinical outcomes. Within a comprehensive diagnostic device, AP may be an important tool, but is not necessary to screen for optic nerve disease or evaluate acute vision loss.

Epidemiology and Outcomes Following Open Globe Injury in Agricultural Region, an 11-Year Experience.

PURPOSE: To determine the characteristics and epidemiology of open globe injury (OGI) in a third referral centre over 11 years. METHODS: The study was a retrospective observational study. The medical records of 978 OGI cases (a total of 998 eyes), admitted to Chiang Mai University Hospital, Thailand from January 2006 to December 2016, were reviewed. RESULTS: The mean age (SD) of patients was 39.1 (17.5) years. Patients were predominantly male (867, 88.7%). The age with the highest incidence of injury ranged from 41 to 60 years, in both genders. Most injuries happened at the workplace (64.8%), with flying objects from electric grass trimmers (23.9%) being the major injury-related mechanism. Penetration injuries were found in 479 eyes (48.0%). In elderly group (aged >60 years), a higher proportion of a globe rupture injuries were observed (13.3%). In general, intraocular foreign body group presented with better initial visual acuity (VA) compared to other injury types (p< 0.001). In all types of injury, final VA was significantly improved after treatment. However, rupture and perforation globe injuries had significantly worse final VA outcomes, compared to penetration and intraocular foreign body injuries (p< 0.001). With multivariable regression analysis, poor initial VA (p< 0.001), type of injury (p= 0.028), positive relative afferent pupillary defect (RAPD) (p< 0.001), and endophthalmitis (p< 0.001) were associated with poor visual outcomes. CONCLUSIONS: Work-related eye injury is a major cause of OGI. Poor initial VA, endophthalmitis, presence of RAPD, and rupture were the predictors for poor final visual outcomes.

Phacoemulsification and 1% atropine eye drops for treatment of antimetropic congenital microcoria associated with cataracts / Facoemulsificação e colírio de atropina a 1% para tratamento de microcoria congênita antimetrópica associada a catarata

ABSTRACT A rare case of bilateral congenital microcoria associated with antimetropia in a 47-year-old man is here described. The patient presented with a chief complaint of progressive vision loss in his right eye over the past five years. A slit-lamp examination and ultrasound biomicroscopy confirmed congenital microcoria and cataracts. Phacoemulsification was performed using an iris expansion device and the anterior capsule was stained using the "trypan down under" technique. Preoperative considerations, the surgical approach, and postoperative management are discussed.

RESUMO Um caso raro de microcoria congênita bilateral associada à antimetropia em um homem de 47 anos de idade é descrito aqui. O paciente queixava-se de perda visual progressiva em seu olho direito nos últimos 5 anos. Um exame com lâmpada de fenda e biomicroscopia ultrassônica confirmaram microcoria congênita e catarata. A facoemulsificação foi realizada usando dispositivo de expansão iriana, e a cápsula anterior foi corada através da técnica "trypan down under". Considerações pré-operatórias, abordagem cirúrgica e manejo pós-operatório são discutidos.

Phacoemulsification and 1% atropine eye drops for treatment of antimetropic congenital microcoria associated with cataracts.

A rare case of bilateral congenital microcoria associated with antimetropia in a 47-year-old man is here described. The patient presented with a chief complaint of progressive vision loss in his right eye over the past five years. A slit-lamp examination and ultrasound biomicroscopy confirmed congenital microcoria and cataracts. Phacoemulsification was performed using an iris expansion device and the anterior capsule was stained using the "trypan down under" technique. Preoperative considerations, the surgical approach, and postoperative management are discussed.

A Convergence of Ophthalmic and Life-threatening Emergencies: Acute Angle Closure Glaucoma and Subarachnoid Hemorrhage.

PURPOSE: To report a unique case of acute angle closure glaucoma in the setting of a subarachnoid hemorrhage due to a ruptured cerebral aneurysm. MATERIALS AND METHODS: Observational case report and review of the literature. RESULTS: A 75-year-old woman presented with blurry vision, nausea, vomiting, and left eye pain. She was found to have a complete third nerve palsy, with ptosis, exotropia, hypotropia, and a fixed mydriasis with resultant acute angle closure glaucoma. Pilocarpine was initiated, and neuroimaging revealed a subarachnoid hemorrhage from a ruptured posterior communicating artery aneurysm. The aneurysm was successfully coiled, and outpatient laser iridotomies were subsequently performed. Only 4 prior cases of acute angle closure glaucoma in the setting of a third nerve palsy have been reported in the literature. To our knowledge, this case is the first report of angle closure glaucoma in the setting of a subarachnoid hemorrhage. CONCLUSIONS: This case of a complete third nerve palsy in the setting of a subarachnoid hemorrhage leading to acute angle closure highlights the importance of ruling out this life-threatening diagnosis when neurological signs of increased intracranial pressure and cranial nerve palsies are present.

A 30 s test for quantitative assessment of a relative afferent pupillary defect (RAPD): the infrared pupillary asymmetry (IPA).

BACKGROUND: Detection of a relative afferent pupillary defect (RAPD) by the swinging-light test can be challenging in clinical practice (dark eyes, anisocoria, dark environment). We developed a new method of RAPD quantification based on the recording of the infrared pupillary asymmetry (IPA) with a standard optical coherence tomography (OCT) device. METHODS: The diagnostic value of the IPA for detection of the RAPD was determined by receiver-operating characteristic (ROC) curves and area under the curve (AUC). RESULTS: Twenty-nine subjects were included in this study (17 controls and 12 unilateral optic neuropathies). The IPA was significantly greater in unilateral optic neuropathies (0.39) compared to controls (0.18, p = 0.001). The diagnostic value was good with a ROC-AUC of 0.843. Importantly, the IPA correlated significantly with the inter-eye percentage difference of the macular ganglion cell-inner plexiform layer (mGCIPL) thickness (R = 0.53, p = 0.01). Assessment of the IPA took less than 30 s. CONCLUSION: The present data show that the IPA is a practical and rapid test that can be applied in a clinical setting. The IPA may be a valuable functional outcome measure for clinical trials, complementing structural retinal OCT data in a biological meaningful way. The IPA should be further investigated for suitability for optic neuritis treatment trials.

Spontaneous anterior dislocation of lens in a case of ectopia lentis et pupillae: a rare entity treated by a novel technique of microscope integrated optical coherence tomography (MIOCT) guided intralenticular lens aspiration.

A 7-year-old girl presented with watering and redness in the left eye for 2 months. Her parents reported poor vision in both eyes for 4 years. Visual acuity was finger counting at 1 m and finger counting close to face in the right and left eyes, respectively. Slit lamp examination of the right eye revealed corectopia, aphakia in the pupillary area, temporally subluxated clear crystalline lens, persistent pupillary membrane, irido-hyaloidal adhesion and poorly dilating pupil. Left eye revealed central corneal oedema with descemet scarring, anteriorly dislocated clear crystalline lens with lenticulo-corneal touch. Ultrasound examination of the left eye was normal. Hence a diagnosis of ectopia lentis et pupillae with left eye spontaneous anterior dislocation of the lens along with corneal decompensation was made. The child underwent microscope integrated intraoperative optical coherence tomography guided intralenticular lens aspiration with optical iridectomy in the left eye. Postoperative visual rehabilitation was done with aphakic glasses.

The Aravind Pseudoexfoliation Study: Surgical and First-Year Postoperative Results in Eyes without Phacodonesis and Nonmiotic Pupils.

PURPOSE: To compare intraoperative complication rates, 1-year visual outcomes, and postoperative complication rates over the first postoperative year in eyes with and without pseudoexfoliation undergoing cataract surgery. DESIGN: Prospective, comparative, interventional study. PARTICIPANTS: Nine hundred thirty eyes with cataract and uncomplicated pseudoexfoliation (without phacodonesis, clinically shallow anterior chambers, or pupil size <4 mm) and 476 controls with cataract but without pseudoexfoliation recruited from 4 centers of the Aravind Eye Care System in Southern India. The 2 groups were randomized separately to receive either a single-piece acrylic intraocular lens (IOL; SA60AT; Alcon Laboratories, Fort Worth, TX) or a 3-piece acrylic IOL (MA60AS; Alcon Laboratories). The pseudoexfoliation group also was randomized to receive or not receive a capsular tension ring. METHODS: All eyes underwent phacoemulsification with IOL implantation and were followed up at 1 day, 1 month, 3 months, and 1 year after surgery. MAIN OUTCOME MEASURES: Association of pseudoexfoliation status with intraoperative complication rates, 1-year best-corrected visual acuity, and any other complications. RESULTS: Mean ages were 63.0±6.9 years and 57.9±7.3 years in the pseudoexfoliation and control groups, respectively (P < 0.001). Pseudoexfoliation patients were more likely to be men (P = 0.014), to have a nuclear opalescence grade of more than 4 (P = 0.001), and to have a pupil size of less than 6 mm (P < 0.001) when compared with controls. Intraoperative complication rates were 2.9% and 1.9% in the pseudoexfoliation and control groups, respectively (P = 0.29). One-year postoperative best-corrected visual acuity was comparable (P = 0.09). Complication rates at 1 year were 2.7% and 2.5% in the pseudoexfoliation and control groups, respectively (P = 0.82). Average endothelial cell loss was 14.7% in the pseudoexfoliation group and 12.7% in the control group at 1 year (P = 0.066) when adjusting for age and nuclear opacity. CONCLUSIONS: Pseudoexfoliation eyes without shallow anterior chamber, small pupils, or apparent zonulopathy may represent eyes with lower risks of complications. Despite smaller pupils and denser cataracts, pseudoexfoliation eyes without clinically apparent preoperative zonulopathy were not at a higher risk of intraoperative or postoperative complications or worse visual outcomes after cataract surgery.

Pupillary Abnormalities with Varying Severity of Diabetic Retinopathy.

Our aim is to study the dynamics of pupillary abnormalities in varying severity of diabetic retinopathy. A non-interventional case-control study with 405 eyes of 244 subjects with diabetes, and 41 eyes of 26 subjects with no history of diabetes was done. Diabetes group was classified according to retinopathy severity: no retinopathy, mild non-proliferative diabetic retinopathy (NPDR), moderate NPDR, severe NPDR and proliferative diabetic retinopathy (PDR). After dark adaptation, pupil size and flashlight response were captured with an infrared camera. Baseline Pupil Diameter (BPD), Amplitude of Pupillary Constriction (APC), Velocity of Pupillary Constriction (VPC) and Velocity of Pupillary Dilatation (VPD). Compared to controls, mean BPD decreased with increasing severity of diabetic retinopathy. Mean APC in control group was 1.73 ± 0.37 mm and reduced in mild NPDR (1.57 ± 0.39, p = 1.000), moderate NPDR (1.51 ± 0.44, p = 0.152) and found to be significant reduced in severe NPDR (1.43 ± 0.48, p = 0.001) and PDR (1.29 ± 0.43, p = 0.008). Compared to controls, mean VPC decreased progressively with increasing severity of retinopathy, with a maximal difference in the PDR group. Mean VPD as compared to the control group was significantly reduced in the no DR (p = 0.03), mild NPDR (p = 0.038), moderate NPDR (p = 0.05), PDR group (p = 0.02). We found pupillary dynamics are abnormal in early stages of diabetic retinopathy and progress with increasing retinopathy severity.

Laminin-521 Protein Therapy for Glomerular Basement Membrane and Podocyte Abnormalities in a Model of Pierson Syndrome.

Background Laminin α5ß2γ1 (LM-521) is a major component of the GBM. Mutations in LAMB2 that prevent LM-521 synthesis and/or secretion cause Pierson syndrome, a rare congenital nephrotic syndrome with diffuse mesangial sclerosis and ocular and neurologic defects. Because the GBM is uniquely accessible to plasma, which permeates endothelial cell fenestrae, we hypothesized that intravenous delivery of LM-521 could replace the missing LM-521 in the GBM of Lamb2 mutant mice and restore glomerular permselectivity.Methods We injected human LM-521 (hLM-521), a macromolecule of approximately 800 kD, into the retro-orbital sinus of Lamb2-/- pups daily. Deposition of hLM-521 into the GBM was investigated by fluorescence microscopy. We assayed the effects of hLM-521 on glomerular permselectivity by urinalysis and the effects on podocytes by desmin immunostaining and ultrastructural analysis of podocyte architecture.Results Injected hLM-521 rapidly and stably accumulated in the GBM of all glomeruli. Super-resolution imaging showed that hLM-521 accumulated in the correct orientation in the GBM, primarily on the endothelial aspect. Treatment with hLM-521 greatly reduced the expression of the podocyte injury marker desmin and attenuated the foot process effacement observed in untreated pups. Moreover, treatment with hLM-521 delayed the onset of proteinuria but did not prevent nephrotic syndrome, perhaps due to its absence from the podocyte aspect of the GBM.Conclusions These studies show that GBM composition and function can be altered in vivovia vascular delivery of even very large proteins, which may advance therapeutic options for patients with abnormal GBM composition, whether genetic or acquired.

Pathogenicity of a Human Laminin ß2 Mutation Revealed in Models of Alport Syndrome.

Pierson syndrome is a congenital nephrotic syndrome with eye and neurologic defects caused by mutations in laminin ß2 (LAMB2), a major component of the glomerular basement membrane (GBM). Pathogenic missense mutations in human LAMB2 cluster in or near the laminin amino-terminal (LN) domain, a domain required for extracellular polymerization of laminin trimers and basement membrane scaffolding. Here, we investigated an LN domain missense mutation, LAMB2-S80R, which was discovered in a patient with Pierson syndrome and unusually late onset of proteinuria. Biochemical data indicated that this mutation impairs laminin polymerization, which we hypothesized to be the cause of the patient's nephrotic syndrome. Testing this hypothesis in genetically altered mice showed that the corresponding amino acid change (LAMB2-S83R) alone is not pathogenic. However, expression of LAMB2-S83R significantly increased the rate of progression to kidney failure in a Col4a3-/- mouse model of autosomal recessive Alport syndrome and increased proteinuria in Col4a5+/- females that exhibit a mild form of X-linked Alport syndrome due to mosaic deposition of collagen α3α4α5(IV) in the GBM. Collectively, these data show the pathogenicity of LAMB2-S80R and provide the first evidence of genetic modification of Alport phenotypes by variation in another GBM component. This finding could help explain the wide range of Alport syndrome onset and severity observed in patients with Alport syndrome, even for family members who share the same COL4 mutation. Our results also show the complexities of using model organisms to investigate genetic variants suspected of being pathogenic in humans.

Relationship of the Optic Nerve to the Medial Rectus Muscle During Endonasal Dissection of the Medial Intraconal Orbital Apex.

BACKGROUND: Few studies have established surgical landmarks for endoscopic endonasal dissection of the intraconal orbital apex (OA). OBJECTIVE: We describe the optic nerve (ON) anatomy and its relationships, as seen during a fully endoscopic, endonasal approach to the medial intraconal OA. METHODS: The study question was approached through a cadaver dissection and a radiographic study. Four formalin-fixed, latex-injected cadaver heads were dissected using transnasal endoscopic techniques. Dissection was performed using 0 degree and 30 degree nasal endoscopes and standard endoscopic sinus surgical instrumentation. A bi-nostril 4-handed technique was used. The anatomy of 8 medial OAs was evaluated and recorded. As the radiographic portion, 100 consecutively enrolled patient magnetic resonance images were evaluated, with particular attention given to the relationship of the ON to the medial rectus muscle (MRM) in 200 orbits. RESULTS: Intraconally, the ON consistently coursed along the superior half of the MRM. Interestingly, the nerve was more easily identified from a superior approach after retracting the MRM inferiorly. With the identification of the nerve at the OA, carrying the dissection of the medial OA was easily accomplished with the ON as the guiding landmark. The radiographic portion of this study revealed a consistent relationship between the superior edge of the ON and the MRM. This relationship was maintained in the orbital apex in 98.4%-100% of the orbits examined. CONCLUSION: The superior edge of the optic nerve is consistently found coursing along the superior half of the MRM, facilitating facile identification and further dissection navigation.