New kinase-deficient PAK2 variants associated with Knobloch syndrome type 2.

The p21-activated kinase (PAK) family of proteins regulates various processes requiring dynamic cytoskeleton organization such as cell adhesion, migration, proliferation, and apoptosis. Among the six members of the protein family, PAK2 is specifically involved in apoptosis, angiogenesis, or the development of endothelial cells. We report a novel de novo heterozygous missense PAK2 variant, p.(Thr406Met), found in a newborn with clinical manifestations of Knobloch syndrome. In vitro experiments indicated that this and another reported variant, p.(Asp425Asn), result in substantially impaired protein kinase activity. Similar findings were described previously for the PAK2 p.(Glu435Lys) variant found in two siblings with proposed Knobloch syndrome type 2 (KNO2). These new variants support the association of PAK2 kinase deficiency with a second, autosomal dominant form of Knobloch syndrome: KNO2.

Systolic hypertension as side effect of topical low dose atropine drops.

Purpose: To present a case of increased systemic hypertension and pupil dilation related to low dose atropine eyedrops. Observations: A thirteen-year-old male with progressive myopia received atropine 0.05% ophthalmic drops to slow down myopia progression. He exhibited systemic systolic hypertension, photophobia, and bilateral nonreactive mydriasis. The atropine drops were discontinued, and his blood pressure and pupillary function normalized. Conclusions and importance: This case demonstrates sensitivity to low dose atropine with increased systemic blood pressure and pupillary dilation.

DYRK1A retinopathy.

We present a case of retinopathy in a 4-year-old girl with DYRK1A syndrome. On external examination, she had short stature, cognitive delay, microcephaly, and iris coloboma of the right eye. On fundus examination of both eyes, she was found to have lattice degeneration and areas of avascularity in the retinal periphery, with overlying hyaloidal organization. Widefield fluorescein angiography showed vascular pruning and vascular arborization with leakage. Given the risk for progression to retinal detachment, laser photocoagulation was applied to areas of peripheral avascular retina. To our knowledge, this is the first detailed phenotypic analysis of anomalous retinal vasculature in this syndrome.

Novel Virtual Vision Screening Program: Give Kids Sight Day 2020.

PURPOSE: To determine whether a low-technology novel virtual vision screening protocol can reliably screen pediatric visual acuity. METHODS: Give Kids Sight Day (GKSD), an annual out-reach program, aims to provide free vision screening and ophthalmic care to underserved children in Philadelphia, Pennsylvania. Children were screened virtually through the low-technology protocol. Based on screening results, 152 children were provided in-person eye examinations. Data from in-person examinations were compared to data from virtual screenings for 151 children who were seen in-person. RESULTS: Of 475 children screened virtually, 152 children were seen in-person for examination, and 151 children were included in the analysis. Results from 151 children (mean age: 10.7 years, age range: 5 to 18 years, 43% female, 28% speaking a non-English language) were reviewed. There was a moderate correlation (R = .64, P < .0001; n = 100 children) between screening and in-person visual acuity without refractive correction and a strong correlation (R = 0.82, P < .0001; n = 18 children) between screening and in-person visual acuity with refractive correction. Of the 140 children who were seen in-person, 133 children were provided glasses prescriptions. Seventeen children required a referral to a pediatric ophthalmologist for evaluation of ophthalmic conditions, most commonly strabismus (5.3%) and amblyopia (4%). CONCLUSIONS: The GKSD virtual visual acuity testing demonstrated good correlation with in-person visual acuity testing, supporting the virtual screening approach as a useful tool for future applications in widespread community vision outreach programs. Further studies are needed to refine virtual ophthalmic screening to optimize its applications in bridging the gaps in ophthalmic care. [J Pediatr Ophthalmol Strabismus. 2023;60(6):390-395.].

Resolution of traumatic mydriasis and accommodative dysfunction eight years after sweetgum ball ocular injury.

Purpose: To present a case of traumatic mydriasis (MD) and accommodative dysfunction (AD) secondary to a sweetgum ball ocular injury that resolved 8 years after the inciting trauma. Observations: A 6-year-old female presented with left eye ocular trauma after being hit with a sweetgum ball. Sweetgum balls are the small, spiky fallen fruits of the American Sweetgum tree (Liquidambar styraciflua). Due to their size and shape, children often use them as projectiles during play. On presentation, the patient had a partial thickness corneal laceration, traumatic mydriasis (TM), and accommodative dysfunction (AD). Her corneal laceration was repaired. Her TM and AD persisted. She was treated with bifocal spectacles and patching. At her 7-year follow-up visit, her TM and AD showed minimal signs of improvement. Eight years post-injury, her TM and AD had both improved significantly. Conclusion and Importance: Sweetgum balls, when used as projectiles, pose a risk of serious ocular injury. Pupillary and accommodative function in TM may improve much later than previously appreciated. Young age may contribute to parasympathetic neuroregeneration. Patching may have prevented amblyopia in this case, allowing her left eye to achieve its full visual potential once her pupillary and accommodative function returned.

Persistent epithelial defect after photorefractive keratectomy in a patient with autism.

Refractive surgery has been performed under general anesthesia on pediatric and neurobehaviorally challenged adults without reported loss of vision or serious complications. Persistent epithelial defect (PED) is a rare complication of photorefractive keratectomy (PRK) in the general refractive surgery population. We report a case of PED following PRK under general anesthesia for high myopia in a man with autism and ocular history of juvenile open-angle glaucoma and dry eye syndrome.

Utility of Neonatal Ophthalmologic Examination for Detection of Infectious Etiologies for Symmetric Intrauterine Growth Restriction.

OBJECTIVE: To determine the utility of ophthalmologic examination as part of evaluation for infection in infants with intrauterine growth restriction (IUGR). STUDY DESIGN: This is a single-institution retrospective chart review of neonates diagnosed with symmetric IUGR or small for gestational age (SGA) who underwent complete ophthalmologic consultation to assess for intraocular findings suggestive of congenital infection. Data collected included other factors that may cause IUGR, findings of general and ophthalmologic examinations, and results of investigation for intrauterine infection. Cost minimization analysis was also performed. RESULTS: One hundred neonates met the study's inclusion criteria (IUGR, n = 24; SGA, n = 45; IUGR and SGA, n = 31). The mean gestational age at birth was 34.6 ± 3.0 weeks, and the mean birth weight was 1691 ± 530 g; 74% had an identifiable risk factor for IUGR and 84 patients underwent investigation for intrauterine infection. Two of the 73 patients who had urine culture for cytomegalovirus (CMV) were positive (1 of whom had systemic signs of severe congenital infection without eye involvement, the other who had no clinical signs of congenital CMV); evaluations for infection were negative otherwise. No patients had any ophthalmologic signs of congenital infection. CONCLUSIONS: Current literature suggests that routine evaluation of neonates with isolated IUGR for congenital infection may be low-yield and not cost-effective. Our study found that routine ophthalmologic evaluation in newborns with symmetric IUGR who have no systemic signs of intrauterine infection is of little value.

Idiopathic Orbital Pseudotumor Preceding Systemic Inflammatory Disease in Children.

PURPOSE: To describe four pediatric cases in which isolated orbital pseudotumor preceded the development of a systemic inflammatory disease by months to years. METHODS: The medical records of all patients with the clinical diagnosis of orbital pseudotumor seen at the Ocular Oncology Service of Wills Eye Hospital and Northern Virginia Ophthalmology Associates from 2010 to 2015 were reviewed retrospectively, and those associated with systemic inflammatory disease were selected for further study. Data were retrospectively collected from medical record review regarding patient demographics and clinical features, time to development of systemic inflammatory disease, and medical management. RESULTS: In four pediatric patients, isolated orbital pseudotumor preceded the development of a systemic inflammatory disease, including pauciarticular juvenile idiopathic arthritis, eosinophilic granulomatosis with polyangiitis (Churg-Strauss syndrome), granulomatosis with polyangiitis (Wegener's granulomatosis), and Crohn's disease. CONCLUSIONS: Orbital pseudotumor may be an antecedent to systemic inflammatory disease in children. Because this was a small case series, the authors are not ready to suggest that a full systemic work-up for systemic inflammatory disease is warranted for every patient with orbital pseudotumor. However, close observation and suspicion for systemic inflammatory conditions may be reasonable in children who present with idiopathic orbital pseudotumor. [J Pediatr Ophthalmol Strabismus. 2019;56(6):373-377.].

Congenital fibrosis of the extraocular muscles: review of recent literature.

PURPOSE OF REVIEW: Congenital fibrosis of the extraocular muscles (CFEOM) is caused by abnormal development of the innervation of extraocular muscles. We update the recent literature regarding the clinical, anatomic, genetic, and molecular characteristics of CFEOM. Surgical considerations are addressed. RECENT FINDINGS: CFEOM is broken down into three main subtypes, CFEOM1, CFEOM2, and CFEOM3. Several recent reports of individuals, as well as family pedigrees, highlight the phenotypic heterogeneity of CFEOM. Intracranial and intraorbital radiologic findings have enhanced our understanding of the disease pathophysiology. Molecular genetics research has increased our understanding of the development of extraocular muscles and their innervation as well as pathophysiology of CFEOM. SUMMARY: Our understanding of the pathophysiology of CFEOM has increased with the recent contributions from neuroimaging, molecular genetics, and pedigree analysis. Surgical management of patients with CFEOM continues to be challenging.

Inconsistent diagnostic criteria for convergence insufficiency.

BACKGROUND: Convergence insufficiency (CI) is a common entity but seems to be an ill-defined diagnosis that incorporates many near-vision symptoms. The current literature often varies in its criteria for diagnosis. Without a clear definition and standardization of the clinical examination, there is the potential for misdiagnosis and/or the inclusion of other diagnoses as CI. The purpose of this study was to assess the uniformity of diagnostic criteria in a well-defined practice environment. METHODS: The medical records of individuals diagnosed with CI between June 2007 and November 2014 who were patients of 6 fellowship-trained strabismologists in private practices and at Wills Eye Hospital clinics were reviewed retrospectively. Exclusion criteria included any previous treatments for CI, prior strabismus surgery, or other causes for strabismus, including cranial nerve palsies. The following data were collected: age, sex, race, age at diagnosis, past medical and family history, relevant symptoms, visual acuity, near point of convergence (NPC), strabismus measurements, and fusional amplitudes at distance with base-out and base-in prisms. RESULTS: A total of 387 patients fit our inclusion criteria and were analyzed in our study. There was no uniformity across clinicians in the clinical evaluation and diagnosis of patients with CI. The amplitude of the NPC was highly variable, and most clinicians did not assess the quality of the convergence movement or perform convergence fusional amplitude testing in making the diagnosis of CI. CONCLUSIONS: Our review has demonstrated the range of criteria within one group of practitioners to diagnose CI. This may reflect our current understanding and the need for an evidence-based definition of the disease and its diagnosis.

Ocular manifestations of PACS1 mutation.

Heterozygous mutation in the PACS1 (phosphofurin acidic cluster sorting proteins 1) gene is a known cause of developmental delay, multiple congenital anomalies, dysmorphism, and ocular abnormalities. We present the case of an affected 10-year-old girl, conceived by assisted reproductive technology, who has ocular coloboma and findings characteristic of PACS1 mutation.

Antivascular endothelial growth factor in the treatment of retinopathy of prematurity.

PURPOSE OF REVIEW: To review the most recent literature regarding the clinical experience of antivascular endothelial growth factor (anti-VEGF) therapies in the treatment of retinopathy of prematurity (ROP). RECENT FINDINGS: Anti-VEGF agents in stage 3+ and aggressive posterior ROP have been shown to induce rapid ROP regression. However, significant reoccurrence rates can require repeat injections and thus longer term and more frequent follow-up. Initial studies reflect conflicting evidence regarding significant systemic side effects of these treatments, and outcomes in these patients past the first few years of life are yet to be definitively determined. SUMMARY: Although anti-VEGF therapies show promise in the treatment of ROP, frequent reoccurrences and lack of thorough data about long-term side effects of pharmacologic intervention necessitate further research before anti-VEGF agents become the mainstay of ROP management.

Clinical Evaluation of Four-Muscle Tenotomy Surgery for Nystagmus.

PURPOSE: To document prospectively the effect of four-muscle tenotomy surgery on visual acuity (VA) and nystagmus intensity and assess, by the use of a questionnaire, the experience of adult patients and the parents of children who have had the four-muscle tenotomy procedure for nystagmus in the absence of strabismus or an anomalous head position. The qualitative perceived benefits or lack thereof from the procedure were compared to the subjective effects on nystagmus intensity and VA. METHODS: Fifteen patients diagnosed as having congenital/infantile or acquired nystagmus, including albinism or other visual sensory disorders without anomalous head positions or coexisting strabismus, were included in this study. The changes in preoperative and postoperative VA and nystagmus were evaluated based on clinical and perceptual measurements and video recordings. RESULTS: All 15 patients had preoperative and postoperative ophthalmological examinations. One patient had a postoperative conjunctival cyst, which was successfully removed. Fourteen patients (93%) showed clinical VA improvement in at least one eye. Fourteen patients were video recorded preoperatively and postoperatively to analyze their nystagmus intensity; case 9 was not included. Postoperatively, 10 patients (71%) showed a decrease in nystagmus intensity. Thirteen patients (87%) perceived vision improvement and 11 patients (73%) perceived a decrease in nystagmus intensity. All patients experienced either clinically improved VA or a decrease in nystagmus intensity. Fourteen patients (93%) perceived either improved VA or a decrease in nystagmus intensity. The preoperative and postoperative changes in VA (P = .002) and nystagmus intensity (P = .043) were both statistically significant. CONCLUSIONS: The authors have shown that four-muscle tenotomy surgery for nystagmus can improve VA and decrease nystagmus intensity. The study yielded subjective patient satisfaction, modest objective improvement in VA, and no significant complications.

Bedside repair of congenital upper eyelid entropion: A variation of the Quickert suture technique.

PURPOSE: The current literature is void of any lasting bedside treatments for congenital upper eyelid entropion repair. OBSERVATIONS: A six-day old male was born with bilateral upper eyelid entropion associated with a duplication of the long arm of chromosome 3q11.1-q24. Conservative management with ocular lubrication and observation did not yield spontaneous resolution, and surgical intervention was performed at the bedside with a Quickert suture technique. CONCLUSIONS AND IMPORTANCE: We discuss the novel use of this technique and review the relevant literature. Our technique is something not previously described in the literature for congenital upper eyelid entropion. It obtained satisfactory and sustained resolution.

Strabismus.

Defining the type of strabismus creates a framework for work-up and management. Comitant esotropia is most commonly a childhood condition treated with glasses and surgery. Comitant exotropia is often a childhood condition that may require surgical correction. Microvascular disease is the most common cause of ocular cranial nerve palsies in adult patients.