Ophthalmic features of Lamb-Shaffer syndrome: a case series.

Lamb-Shaffer syndrome (LSS) is a rare neurodevelopmental disorder, genetically diagnosed in fewer than 100 individuals worldwide. We present a case series of 6 pediatric patients with LSS and describe its ophthalmic manifestations. Strabismus was present in 5 patients, with exotropia being most common. All subjects had significant refractive errors; 5 had astigmatism of at least 2 D. All patients had optic nerve abnormalities, including pallor (4), hypoplasia (2), and anomalous appearance (1), with retinal nerve fiber layer thinning demonstrated in a single subject. Other ophthalmic disorders detected were ptosis (1), nasolacrimal duct obstruction (1), and nystagmus (2).

A Comparison of Chemodnervation to Incisional Surgery for Acute, Acquired, Comitant Esotropia: An International Study.

PURPOSE: To compare the efficacy of botulinum toxin injections to strabismus surgery in children with acute, acquired, comitant esotropia (ACE), and to investigate factors predicting success. DESIGN: International, multi-center nonrandomized comparative study METHODS: Setting: Cloud-based survey. STUDY POPULATION: Children aged 2 to 17 years who underwent a single surgical intervention for ACE. INTERVENTIONS: Botulinum toxin injection ("chemodenervation" group) or strabismus surgery ("surgery" group). MAIN OUTCOME MEASURES: Primary measure: success rate at 6 months in propensity-matched cohort, defined as total horizontal deviation of 10 prism diopters or less with evidence of binocular single vision. Secondary measure: Risk factors for poor outcomes in the full cohort. RESULTS: Surgeons from 19 centers contributed. There were 74 patients in the chemodenervation group and 97 patients in the surgery group. In the propensity-matched data (n = 98), success rate was not significantly different at 6 months (70.2% vs 79.6%; P = .2) and 12 months (62.9% vs 77.8%; P = .2), but was significantly lower in the chemodenervation group at 24 months (52% vs 86.4%; P = .015). Irrespective of treatment modality, treatment delay was associated with lower success rates at 6 months, with median time from onset to intervention 4.5 months (interquartile range (IQR): 2.1, 6.7) in the success group and 7.7 months (IQR: 5.6, 10.1) in the failure group (P < .001). CONCLUSIONS: In children with ACE, success rate after chemodenervation was similar to that of surgery for up to 12 months but lower at 24 months. Those with prompt intervention and no amblyopia had the most favorable outcomes, regardless of treatment modality.

Inflammatory Myofibroblastic Tumor of the Orbit in a 5-Month-Old Infant.

Inflammatory myofibroblastic tumors are mesenchymal neoplasms composed of spindle cells and inflammatory infiltrate. The authors describe a 5-month-old infant with orbital inflammatory myofibroblastic tumor, the youngest patient currently reported in the literature. The histo-pathology, orbital apex location, and patient's age led to a chemotherapy-driven treatment using crizotinib with near-complete resolution of the tumor. [J Pediatr Ophthalmol Strabismus. 2022;59(2):e25-e28.].

Initial Occurrence of Bilateral Anterior Uveitis in a Patient with Juvenile Idiopathic Arthritis following Discontinuation of Topical Steroids after Bilateral Strabismus Surgery.

Post-operative inflammation is a well-known complication of intraocular surgery. This is especially true in patients with a prior history of uveitis or with a predisposition for an inflammatory response. We report the first published case of a patient who developed bilateral anterior uveitis after bilateral strabismus surgery. It was the first episode of uveitis for this patient who had a pre-existing diagnosis of juvenile idiopathic arthritis.

Ophthalmic findings of Mycoplasma-induced rash and mucositis (MIRM) distinct from Stevens-Johnson syndrome.

PURPOSE: To identify ophthalmic manifestations of Mycoplasma-induced rash and mucositis (MIRM). METHODS: The medical records of patients with MIRM treated by the inpatient ophthalmology consult service at a single institution over a period of 4 years were reviewed retrospectively. Eye and skin findings, treatment, hospital course, and follow-up findings were documented and reviewed. RESULTS: MIRM was identified in 10 patients, 10-20 years of age (mean, 13.) All presented with oral mucosal findings and a prodrome. On initial examination, conjunctival epithelial defects were present in 2 patients; pseudomembranes, in 3. Five patients experienced progressive ophthalmic manifestations during hospitalization, including a new cornea epithelial defect in 1 patient and a new conjunctival epithelial defect in 3 patients. All were treated with topical steroids and antibiotics. Post-discharge follow-up obtained for 7 patients documented good visual outcomes and lack of significant ocular sequelae without requiring invasive intervention. CONCLUSIONS: MIRM, previously referred to as mycoplasma-associated Stevens-Johnson syndrome (SJS) among other names, is now understood to be distinct from SJS in the dermatology community. Our MIRM patients present with mild eye findings and required no surgery, similar to the mild course published in the dermatology literature. Patients with MIRM may have a more benign course than those with SJS.

Refractive Amblyopia Secondary to Astigmatism in Pediatric Patients With Distichiasis.

Distichiasis is the presence of accessory eyelashes emerging from the meibomian gland orifices. It may occur as an isolated abnormality or in conjunction with other ocular and systemic defects. Lymphedema-distichiasis syndrome (LDS) is an autosomal dominant disorder characterized by distichiasis and age-dependent lower extremity swelling due to altered lymphatic flow. The authors describe four pediatric patients with distichiasis (one with genetically proven LDS) with refractive amblyopia secondary to astigmatism. [J Pediatr Ophthalmol Strabismus. 2021;58(4);e16-e18.].

Bilateral optic nerve compression secondary to skull hyperostosis from vitamin A deficiency.

A 15-year-old boy with a history of autism spectrum disorder presented with bilateral progressive blurry vision and nyctalopia. Initial examinations, including optical coherence tomography scans of the macula and optic nerve, were within normal limits. Subsequent examination revealed trace pallor of the right optic nerve. Computed tomography and magnetic resonance imaging of the brain demonstrated diffuse thickening of calvarial bone with bilateral optic nerve compression. Laboratory evaluation was notable for profound vitamin A deficiency. The patient underwent optic nerve decompression and vitamin A supplementation with postoperative improvement in visual acuity of both eyes.

Ophthalmia neonatorum as the presenting sign of SARS-CoV-2.

The most common ocular manifestation of SARS-CoV-2 in adults and children is acute conjunctivitis. We report the case of a 4-day-old infant who presented with acute-onset mucopurulent discharge of the left eye as well as subconjunctival hemorrhage and palpebral injection, without corneal findings. A diagnosis of ophthalmia neonatorum was established, for which ocular cultures and Gram staining were performed. No bacterial growth was noted, and polymerase chain reaction (PCR) testing for Chlamydia trachomatis, Neisseria gonorrhea, and herpes simplex were negative. Nasopharyngeal and conjunctival SARS-CoV-2 PCR were positive. Given the identification of SARS-CoV-2 illness, lack of other underlying bacterial or viral etiology on testing, and the well-documented ability for SARS-CoV-2 to cause conjunctivitis, the clinical picture was supportive of ophthalmia neonatorum secondary to SARS-CoV-2. The infant was treated with ceftriaxone and azithromycin prior to culture results. During admission, no systemic findings of Covid-19 illness were observed.

Spontaneous consecutive sensory esotropia: a case series.

We present the first case series of patients with no systemic neurologic disease who experienced a spontaneous conversion from an initial exotropia to a sensory esotropia in the absence of strabismus surgery or chemodenervation. The patients in this series all were exotropic in the first 2 years of life, with the strabismic eye having decreased vision due to unilateral ocular pathology. All patients demonstrated spontaneous conversion to esotropia between 4 and 8 years of age and thereafter clinically demonstrated a high ratio of accommodative convergence to accommodation. There was no discernible relationship between refractive error and the pattern of spontaneous esotropia. The existence of this rare entity may support delayed surgical correction of strabismus in patients with sensory exotropia.

Experience of a non-pediatric-trained ophthalmic hospitalist at a children's hospital.

The relatively novel role of ophthalmic hospitalist at our institution includes evaluation and management of all inpatient and emergency department ophthalmology consultations. This report reviews the management of consultations at a children's hospital by the non-pediatric-trained ophthalmologist in this role. Within the study period of 2 months, 61 pediatric patients were evaluated by the ophthalmic hospitalist service. The pediatric ophthalmology department was consulted in 15 cases (25%), 10 of which were for discussion alone. This model of care illustrates an effective way to provide an ophthalmology consult service at a children's hospital in conjunction with pediatric ophthalmology subspecialists for management.

Management of ocular manifestations of autosomal recessive congenital ichthyosis 4B, harlequin type, in the perinatal period.

Autosomal recessive congenital ichthyosis (ARCI4B [OMIM #242500]), also known as harlequin ichthyosis, presents at birth with extreme hyperkeratosis and thick-fissured plaques, leading to tightness of the skin around the eyes, mouth, ears, chest, abdomen, and extremities. Ocular manifestations include cicatricial ectropion and exposure keratitis. We present 2 infants with ARCI4B and cicatricial ectropion who were managed with aggressive nonsurgical therapy. Both infants avoided severe ocular sequelae and maintained corneal clarity, highlighting that management of exposure keratopathy with frequent ophthalmic ointment application can prevent severe ocular surface pathology in ARCI4B.

Late exudative retinopathy after laser treatment for retinopathy of prematurity in a child with dyskeratosis congenita.

Exudative retinopathy may be a manifestation of a variety of isolated ocular or systemic diseases in children. We report the case of a teenager with dyskeratosis congenita who developed a unilateral late exudative retinopathy after having previous laser treatment for threshold retinopathy of prematurity as an infant.

Primary lacrimal sac diffuse large B-cell lymphoma in a child.

We report the case of a 13-year-old boy who presented with a 2-month history of left eyelid swelling, ecchymosis, and epiphora. Magnetic resonance imaging revealed a lobulated lesion in the region of the left lacrimal sac extending to the left nasolacrimal duct. Biopsy revealed diffuse large B-cell lymphoma of the lacrimal sac. Chemotherapy was initiated, consisting of rituximab, methotrexate, cytarabine, doxorubicin, cyclophosphamide, and vincristine. The lesion resolved within weeks of treatment, and the patient remained disease free at 1 year. Primary orbital lymphoma is rare in children; primary diffuse large B-cell lymphoma of the lacrimal sac in a child has not been reported previously.

Prevention of Leber congenital amaurosis through preimplantation genetic diagnosis.

Preimplantation genetic diagnosis can allow a family with a hereditary genetic mutation to conceive a disease-free child. We report the first published case of a child born without Leber congenital amaurosis through preimplantation genetic testing to a couple who had a son with a homozygous mutation in the GUCY2D gene.

Hypertensive retinopathy as the initial presentation of neuroblastoma.

PURPOSE: To describe a case of a patient who presented with hypertensive retinopathy and was found to have neuroblastoma. OBSERVATIONS: Neuroblastoma has three main ocular presentations. As a primary disease, it can present with a paraneoplastic syndrome in the form of opsoclonus, or it can present as a Horner's syndrome from its effect on the cervical sympathetic ganglia. Metastatic disease can present as a triad of periorbital edema, ecchymosis and proptosis from orbital bone involvement. Hypertension is a rare systemic presentation of neuroblastoma. We report the case of a two-year-old girl whose initial presentation of neuroblastoma was hypertensive retinopathy. CONCLUSIONS AND IMPORTANCE: To our knowledge, this is the first reported case of neuroblastoma presenting as hypertensive retinopathy. Our case highlights the importance of a multidisciplinary approach and thorough systemic work up of ocular findings in order to arrive at an appropriate diagnosis.

Abnormal Pupil Finding After an Orbital Floor Fracture in a Child.

PURPOSE: Trauma to the pupillary fibers can occur during repair of orbital floor fracture resulting in a fixed and dilated pupil. The authors report, discuss, and propose an etiology of an abnormal pupil in a child with an orbital floor fracture before surgical repair. METHODS: A case report is described. RESULTS: Although the orbital fracture was repaired, anisocoria persisted 18 months after the initial trauma. CONCLUSIONS: Pupillary function must be assessed before surgical repair of an orbital floor fracture as damage of the pupillary fibers can occur secondary to the orbital floor fracture.

Esotropia in Children with Ventricular-Peritoneal Shunts.

PURPOSE: Compared with the general population, patients with hydrocephalus are more likely to have strabismus. This study was undertaken to examine characteristics and outcomes of children with esotropia and ventricular-peritoneal shunt placement due to hydrocephalus. METHODS: This is a retrospective chart review of all pediatric patients with esotropia and a history of ventricular-peritoneal shunt placement seen by our pediatric ophthalmology service between January 2000 and December 2010. RESULTS: Sixteen patients between the age of 3 months and 5.6 years met study criteria. Nine were premature and all but one of the patients had developmental delay. Although all patients had a ventricular-peritoneal shunt, the diagnosis leading to shunt placement was intraventricular hemorrhage or congenital hydrocephalus in 75% of the patients. In all but 3 patients the hydrocephalus was diagnosed before the esotropia. Ten children had congenital esotropia and 6 had acquired esotropia. Eleven of the 16 children required glasses: 5 had a myopic prescription and 6 had a hyperopic prescription. Treatment of the esotropia resulted in 9 patients (56%) with successful ocular alignment (<10 prism diopters) on their last visit: 7 underwent strabismus surgery and 2 were treated with glasses only. Of the 9 patients who had strabismus surgery, 6 had congenital esotropia and 3 had acquired esotropia. Among patients who underwent strabismus surgery, 78% had successful ocular alignment at their last visit. CONCLUSIONS: While acquired accommodative esotropia is more common in the general population, children with ventricular-peritoneal shunts may be more likely to have congenital esotropia. Although developmental delay is very frequent, successful ocular alignment may be possible in this patient population.

Bilateral superior rectus transposition for congenital exotropia associated with anomalous medial rectus muscles.

Superior rectus transposition to the lateral rectus insertion without inferior rectus transposition has been used to correct esotropic deviations secondary to Duane syndrome and abducens nerve palsy. This is usually combined with an augmented posterior fixation suture of the superior rectus muscle to the lateral rectus muscle and ipsilateral medial rectus recession. We report a child with a large-angle congenital exotropia who was found to have anomalous medial rectus muscles bilaterally. Bilateral superior rectus transposition to the medial rectus insertion with bilateral lateral rectus recessions achieved good ocular alignment in primary position.

Presumed ocular juvenile xanthogranuloma and biopsy-proven cutaneous mastocytosis occurring sequentially in a young boy.

Juvenile xanthogranuloma is a benign non-Langerhans cell histiocytosis characterized by skin lesions that tend to be self-limited. Ocular lesions can occur in juvenile xanthogranuloma, most commonly presenting as an iris granuloma. Skin lesions of juvenile xanthogranuloma may appear similar to lesions of mastocytosis. Mastocytosis includes a heterogeneous group of diseases characterized by the proliferation and abnormal infiltration of mast cells. Rubbing of cutaneous lesions leads to the release of histamine, causing the lesions to urticate. Juvenile xanthogranuloma and mastocytosis skin lesions occurring concurrently is extremely rare, with only four cases reported. Ocular juvenile xanthogranuloma and cutaneous lesions of mastocytosis have never been described in the same patient in the literature. The authors describe a patient with an ocular juvenile xanthogranuloma presenting at birth with cutaneous mastocytosis developing several years later.