Outcome of optical iridectomy in Peters anomaly.

PURPOSE: Optical iridectomy creates a defect in the iris to allow an alternative clear visual axis in cases of central corneal opacities occluding the pupillary axis. The purpose of this study is to evaluate the outcomes of optical sector iridectomy in children with Peters anomaly. METHODS: Retrospective case series. The medical records of all patients diagnosed with Peters anomaly who underwent optical iridectomy during the years 2002-2014 were reviewed. Data collection included surgical and visual acuity outcomes. RESULTS: Twenty-nine eyes (22 patients) were included in the study. Mean age at the time of surgery was 15.6 ± 26.3 months. Eighteen (81.8%) patients had bilateral disease. No intraoperative complications occurred. A red reflex was obtained in 28 (96.6%) eyes after surgery. Mean visual acuity improved from 2.5 ± 0.3 to 1.8 ± 0.6 in logMAR (p < 0.001). Vision improved in 21 (72.4%) eyes, remained stable in 5 (17.2%) eyes, and deteriorated in 3 (10.3%) eyes. Postoperatively visual acuity improved significantly in the patients with the bilateral disease (p < 0.05), but not in the unilateral group (p = 0.056). Mean follow-up time was 41.6 ± 43.8 months. During the follow-up period, five (17.2%) eyes were diagnosed with glaucoma, two (6.9%) eyes underwent PK, one (3.4%) eye underwent an additional sector iridectomy, and one (3.4%) eye underwent keratoprosthesis. CONCLUSIONS: In this largest series published of optical iridectomy for Peters anomaly, it was found to be a safe procedure. Improvement in visual acuity is expected, particularly in bilateral cases. The utility of optical iridectomy in unilateral cases necessitates further studies.

Titanium T-Plate as a Platform for Globe Stabilization in Acquired Nystagmus and Oscillopsia Without a Null Zone.

A 49-year-old woman with debilitating nystagmus and oscillopsia failed conservative therapy. A titanium T-plate was anchored to the lateral orbital rim and cantilevered into the orbit where it was secured to the inferior rectus muscle tendon with a suture. After the procedure was performed on both eyes, the patient had significant decreases in the amplitudes of her nystagmus and oscillopsia, thereby improving her daily function. She had sustained duration of effect through 7 years of follow up. This novel surgical technique holds promise in the treatment of acquired nystagmus and debilitating oscillopsia for which conventional therapy may be ineffective. The case report is in compliance with the Health Insurance Portability and Accountability Act.

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).

Congenital fibrosis of the extraocular muscles type 1 (CFEOM1; OMIM #135700) is an autosomal dominant strabismus disorder associated with defects of the oculomotor nerve. We show that individuals with CFEOM1 harbor heterozygous missense mutations in a kinesin motor protein encoded by KIF21A. We identified six different mutations in 44 of 45 probands. The primary mutational hotspots are in the stalk domain, highlighting an important new role for KIF21A and its stalk in the formation of the oculomotor axis.

Brazilian guideline for pediatric cycloplegia and mydriasis.

Cycloplegia is crucial for reliable pediatric ophthalmology examinations. This document provides a re-commendation for pediatric cycloplegia and mydriasis for Brazilian ophthalmologists. This article was developed based on literature reviews; the clinical experience of Brazilian specialists, as obtained through questionnaires; and the consensus of the Expert Committee of the Brazilian Pediatric Ophthalmology Society. According to the best evidence and formulations available in Brazil, this committee recommends the use of one drop of 1% cyclopentolate plus one drop of 1% tropicamide in children older than 6 months and two drops of 1% tropicamide 0-5 minutes apart for those younger than 6 months. Mydriasis may be increased by a single drop of 2.5% phenylephrine. For retinopathy of prematurity screening, the recommendation is 0.5% or 1% tropicamide, administered two or three times, 5 minutes apart, and 2.5% phenylephrine, used preferably once. In all scenarios, we recommend the use of a prior drop of 0.5% proxymetacaine.

Using the White Disk Test to Predict Fusional Potential.

INTRODUCTION: Fusional potential in patients experiencing binocular torsional diplopia may be challenging for the clinician to assess, particularly when accompanied by vertical and horizontal diplopia. OBJECTIVE: To demonstrate a clinical test that may help predict if binocular fusion can be achieved once cyclotorsion is alleviated. DESIGN: Video recording demonstrating how to perform the white disk test and retrospective chart review of patients tested with the white disk test. RESULTS: Twelve patients with binocular torsional diplopia were included. All subjects had excyclotorsion, 11 (91.7%) had combined vertical and horizontal strabismus and 1 patient (8.3%) had vertical strabismus. Eleven patients (91.7%) were able to achieve single binocular vision with the white disk test and 1 patient (8.3%) demonstrated brittle fusion. The white disk test successfully predicted postoperative fusion in 10 of 11 patients (90.9%). Eight patients (66.7%) demonstrated improved stereopsis after surgery. CONCLUSION: The white disk test was found to be very useful in predicting fusional potential in patients that experience binocular torsional diplopia.

Familial exudative vitreoretinopathy associated with retinal astrocytic hamartoma.

PURPOSE: To report the first case of retinal astrocytic hamartoma (RAH) arising in the setting of Familial Exudative Vitreoretinopathy (FEVR). OBSERVATIONS: An otherwise healthy 3-month-old male was clinically diagnosed with Familial Exudative Vitreoretinopathy, with subsequent confirmation of a Frizzled-4 nonsense gene mutation. He was treated with multiple rounds of laser photocoagulation after demonstrated peripheral non-perfusion on fluorescein angiography. At 4 years of age, he was noted to have a solitary retinal astrocytic hamartoma in an area of anterior retinal traction which remains under observation. CONCLUSIONS AND IMPORTANCE: This case describes the first reported instance of a retinal astrocytic hamartoma arising in the setting of FEVR. Multiple factors may have contributed to the formation of this benign tumor, including retinal dysgenesis, genetic background, or even laser photocoagulation. More case reports and/or molecular studies are required to further clarify the potential role of these insults in the pathogenesis of RAH.

Trochlear calcification mimicking an orbital foreign body.

A 39-year-old man presented with diplopia 1 day following left orbit trauma. CT scan and ultrasound showed a left trochlear hyperintensity that was interpreted by both the radiologist and echographer as a metallic foreign body. Surgical exploration failed to identify a foreign body. The patient presumably had preexisting trochlear calcification with a post-traumatic nonconcomitant small-angle vertical deviation and diplopia. Calcification should be considered in the differential diagnosis of trochlear hyperintensity noted on imaging studies.

Surgical treatment of strabismus in thyroid eye disease: characteristics, dose-response, and outcomes.

PURPOSE: To describe the surgical management, dose-response, and postoperative outcomes of strabismus surgery in patients with thyroid eye disease. METHODS: The medical records of patients operated on between 2014 and 2018 were reviewed retrospectively. Patient characteristics and surgical data were collected. Motor success was defined as vertical deviation of ≤5Δ and horizontal deviation of ≤10Δ; sensory success, as no diplopia in primary gaze. RESULTS: A total of 76 patients (mean age, 62.2 ± 12.9 years; 50 females) underwent 87 surgeries, most commonly unilateral inferior rectus recession (unilateral IR, 48%) and bilateral medial rectus recession (bilateral MR, 23%). Motor success was achieved in 69% and sensory success in 58%. For unilateral IR surgery, the dose-responses were 3.25Δ/mm (SE = 0.616; ß = 0.650; P < 0.001) at distance and 2.48Δ/mm (SE = 0.752; ß = 0.472; P = 0.002) at near; for bilateral MR surgery, 3.93Δ/mm (SE = 0.997; ß = 0.680; P = 0.001) at distance and 5.05Δ/mm (SE = 1.374; ß = 0.655; P = 0.002) at near. Median (Q1, Q3) postoperative drift was toward overcorrection for both procedures (unilateral IR, -2Δ [-8, 0] at distance and -2Δ [-7, 0] at near; bilateral MR, -2Δ [-8, 2] at distance and -2Δ [-10, 0] at near). Sex, age, duration of strabismus, prior orbital decompression, and concurrent vertical and horizontal procedures were not associated with dose-response or postoperative drift. CONCLUSIONS: Concurrent vertical and horizontal surgery did not affect the motor success rate, dose-response, or postoperative drift. Although unilateral IR surgery had a larger dose-response at distance, bilateral MR surgery had a larger dose-response at near. Most procedures tended to have a postoperative drift toward overcorrection.

Extraocular muscle insertion shift after disinsertion during strabismus surgery.

PURPOSE: To quantify the amount of insertion shift after disinsertion of the rectus muscles and identify factors that may influence the shift. METHODS: Patients who underwent rectus muscle surgery between November 2018 and April 2019 were included. During surgery, the limbal-insertion distance (LID) distance was measured in millimeters with calipers from the limbus to the center of the insertion at the anterior border of the rectus muscle prior to and after disinsertion. The primary outcome was the shift of the rectus muscle insertion after disinsertion. This was calculated by subtracting the LID after disinsertion from the LID before disinsertion. The secondary outcome was the identification of preoperative and intraoperative factors that influenced insertion shift. Randomization was performed to select one rectus muscle per patient. Patients with a history of prior scleral buckle procedure, glaucoma drainage device, orbital wall fracture and strabismus surgery in the same rectus muscle were excluded. RESULTS: 110 patients were included. The median (Q1, Q3) LID before disinsertion was shortest for the medial rectus muscle [5.0 (4.5, 6.0)], followed by lateral rectus muscle [6.0 (6.0, 7.0)] and inferior rectus muscle [6.0 (5.5, 7.0)]. The overall median (Q1, Q3) insertion shift was 1.0 (0.8, 1.0) mm (p < .001), which did not significantly differ between each rectus muscle subgroup (p = .158). Factors that influenced the amount of shift were moderate to severe restriction on forced duction testing (FDT) (B = 0.320, SE = 0.105, p = .003) and longer LID before disinsertion (B = 0.172, SE = 0.036, p < .001). CONCLUSIONS: We found a significant anterior insertion shift after disinsertion of rectus muscles. Moderate to severe restriction on FDT and longer LID before disinsertion can result in larger insertion shifts.

Marcus Gunn jaw winking syndrome in a 6-year-old boy: a new observation.

We report the case of a 6-year-old boy with bilateral Marcus Gunn jaw winking syndrome with a left hypotropia in primary gaze that decreased in magnitude during jaw thrust to the contralateral side. To our knowledge, this is a new observation with regard to the ocular motility disturbances in this syndrome.

Visual Disability from Transient Diplopia Phenomenon in Acquired Strabismus.

Transient diplopia (TD) is a potentially significant form of visual disability experienced by adults with acquired strabismus. Though this phenomenon can be challenging to quantify, objectively assessing TD may be helpful in the evaluation and management of these patients, as well as defining their visual disability in real-world dynamic conditions.

A novel test for predicting fusional potential in patients with torsional diplopia.

We introduce the novel "white disk" test to evaluate fusional potential in patients with torsional diplopia. In this test, a white disk is presented on a black background in a darkened room to eliminate perception of torsion. Horizontal and vertical misalignment is neutralized with prisms when necessary. The absence of diplopia on the white disk test is used to establish fusional ability. Nine patients with torsional diplopia were assessed using this test. All had excyclotorsion (mean, 9.9° ± 4.2°; range, 5°-15°) and could achieve single binocular vision on testing. Postoperatively, 9 patients reported no torsional diplopia in the preferred gaze position, with a mean excyclotorsion of 0.4° ± 2.8° (range, -5° to 4°). The test appeared to predict fusional potential in all patients.

Association of Country-wide Coronavirus Mortality with Demographics, Testing, Lockdowns, and Public Wearing of Masks.

We studied sources of variation between countries in per-capita mortality from COVID-19 (caused by the SARS-CoV-2 virus). Potential predictors of per-capita coronavirus-related mortality in 200 countries by May 9, 2020 were examined, including age, gender, obesity prevalence, temperature, urbanization, smoking, duration of the outbreak, lockdowns, viral testing, contact-tracing policies, and public mask-wearing norms and policies. Multivariable linear regression analysis was performed. In univariate analysis, the prevalence of smoking, per-capita gross domestic product, urbanization, and colder average country temperature were positively associated with coronavirus-related mortality. In a multivariable analysis of 196 countries, the duration of the outbreak in the country, and the proportion of the population aged 60 years or older were positively associated with per-capita mortality, whereas duration of mask-wearing by the public was negatively associated with mortality (all P < 0.001). Obesity and less stringent international travel restrictions were independently associated with mortality in a model which controlled for testing policy. Viral testing policies and levels were not associated with mortality. Internal lockdown was associated with a nonsignificant 2.4% reduction in mortality each week (P = 0.83). The association of contact-tracing policy with mortality was not statistically significant (P = 0.06). In countries with cultural norms or government policies supporting public mask-wearing, per-capita coronavirus mortality increased on average by just 16.2% each week, as compared with 61.9% each week in remaining countries. Societal norms and government policies supporting the wearing of masks by the public, as well as international travel controls, are independently associated with lower per-capita mortality from COVID-19.

X-linked peripheral retinoschisis without macular involvement: a case series with RS1 genetic confirmation.

Background: Juvenile X-linked Retinoschisis (JXLRS) is a hereditary retinopathy that commonly presents with macular retinoschisis. In this study, we describe a group of patients who presented with peripheral retinoschisis with no macular schisis.Materials and Methods: A retrospective case series of three JXLRS patients with genetically confirmed RS1 genotypes was identified. Presence of macular and/or peripheral retinoschisis as assessed by optical coherence tomography (OCT), wide-field fluorescein angiography, clinical ophthalmoscopy, and color fundus photography.Results: The eyes of the three JXLRS patients with peripheral retinoschisis had no macular schisis or atrophy on OCT. ERG was available in one patient and showed no reduced b-waves on scotopic combined rod-cone response.Conclusions: RS1 mutations can cause a macular-sparing JXLRS phenotype. The diagnosis of JXLRS should be considered for young males presenting with peripheral retinoschisis even if there is no evidence of macular schisis.

Prevalence of refractive errors in children with retinoblastoma.

PURPOSE: The main purpose of this study was to investigate refractive errors in children with unilateral and bilateral retinoblastoma (RB). METHODS: An institutional review board-approved consecutive retrospective cohort study was undertaken. Subjects underwent examination under general anesthesia as part of their RB follow-up, which included evaluation by a single pediatric ophthalmologist. Cycloplegic retinoscopy was performed and keratometry data assessed with a handheld Retinomax K Plus 3 keratorefractometer (Righton Ophthalmic Instruments). RESULTS: The study included 61 eyes of 37 subjects, with 18 (49%) males and 19 females. Seventeen eyes (28%) had hyperopia with spherical equivalent ≥3 D. Refractive astigmatism ≥1.5 D was present in 32% of all eyes. Nine (38%) subjects had anisometropia ≥2 D. Fifteen (63%) subjects had anisometropia ≥1 D. CONCLUSION: This study reports the high proportion of amblyogenic refractive risk factors in children with RB, both in RB-affected eyes and contralateral normal eyes.

Optic Nerve Aplasia, Chorioretinal Hypoplasia, and Microcornea After In Utero Infection With Cytomegalovirus.

Optic nerve aplasia (ONA) is a rare phenomenon characterized by absence of the optic nerve, retinal blood vessels, and retinal ganglion cells. The authors report a case of optic nerve aplasia in association with congenital cytomegalovirus (CMV) infection, conveyed through multimodal imaging including color fundus photography, fluorescein angiography, and B-scan ultrasonography. Furthermore, the authors review the common ocular findings and previously reported cases of ONA in congenital CMV infection. Screening and counseling can be performed to advise parents about the potential risks and severity of this rare clinical manifestation. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:e171-e175.].

Microcornea, posterior megalolenticonus, persistent fetal vasculature, chorioretinal coloboma (MPPC) syndrome: Case series post vitrectomy.

PURPOSE: MPPC syndrome has been described as a syndrome that presents with chorioretinal coloboma, posterior megalolenticonus, persistent fetal vasculature, and chorioretinal coloboma. The purpose of our study is to report three patients who present with a variation of MPPC syndrome who each underwent pars plana vitrectomy, pars plana lensectomy, and amblyopic management. Clinical characteristics, ancillary test findings, and post-surgical functional results are compared to what is reported in the literature. METHODS: Retrospective review of medical records of patients who presented with microcornea, persistent fetal vasculature, chorioretinal coloboma, and microphthalmia who underwent surgical correction at Bascom Palmer Eye Institute. RESULTS: 3 patients (6 eyes) were included, two males and one female. All patients were born full term, vaginally, and had no family history of genetic abnormalities affecting the eye. All patients had color fundus images, fluorescein angiography (FA) and echography. Four eyes underwent surgery. Following surgical intervention, patients demonstrated improved visual acuity, and improved functional status. CONCLUSION AND IMPORTANCE: Patients with microcornea, PFV, chorioretinal coloboma, and microphthalmos, can benefit from surgical intervention when functional decline or media opacities are noted. Though difficult to assess accurate visual acuity and visual improvement pre-operatively and post-operatively, it is evident that our patients demonstrated improvement in functionality and vision following surgical intervention.

Atypical teratoid/rhabdoid tumor arising from the third cranial nerve.

An otherwise healthy 6-week-old girl who presented with an isolated left third cranial nerve palsy underwent MRI that revealed an enhancing mass intrinsic to the left third cranial nerve. Rapid enlargement of the lesion over 1 month led to subtotal neurosurgical resection of an atypical teratoid/rhabdoid tumor (AT/RT), a rare, highly aggressive malignancy of infancy closely related histologically to medulloblastoma and primitive neuroectodermal tumor. Despite aggressive chemotherapy, the patient died within 6 months of presentation. This is the first report of an AT/RT presenting as an isolated third cranial nerve palsy caused by tumor arising from within the nerve.

Variable Clinical Profile of Fovea Plana in Normal Children.

BACKGROUND AND OBJECTIVE: This study is designed to illustrate various clinical findings associated with fovea plana in normal children. PATIENTS AND METHODS: A retrospective chart review of pediatric subjects with a diagnosis of fovea plana was conducted to evaluate the characteristics associated with this condition. RESULTS: All eyes had 20/40 or better best-corrected visual acuity (BCVA). In five of six subjects (83%), there was bilateral fovea plana. Astigmatism equal or greater than +1.5 diopters was present in 45% of eyes. On spectral-domain optical coherence tomography (SD-OCT), a foveal depression was absent in 82% of eyes and the inner nuclear layer was present in the center of the fovea in all eyes analyzed. CONCLUSION: Fovea plana is typically a bilateral disease and occurs in patients with generally good BCVA despite abnormal SD-OCT findings. However, unilateral disease may also be present. Astigmatism may be more prevalent in patients with fovea plana than initially suspected. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:251-257.].