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).

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.].

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.

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.

Cardiopulmonary arrest following administration of Cyclomydril eyedrops for outpatient retinopathy of prematurity screening.

Eyedrops used for mydriasis and cycloplegia can be systemically absorbed, causing serious side effects, including oxygen desaturation, apnea, bradycardia, transient hypertension, delayed gastric emptying, and transient paralytic ileus. These effects can be more serious in infants because of their lower body mass and immature cardiovascular and nervous systems. We report a case of a 27-week-old infant who suffered a cardiopulmonary arrest after the administration of only Cyclomydril eyedrops (Alcon Laboratories, Fort Worth, TX) during an outpatient retinopathy of prematurity examination.

Solitary mastocytoma of the eyelid.

Mastocytosis is a heterogeneous group of diseases characterized by the proliferation and abnormal infiltration of mast cells in tissue. These collections of mast cells are called mastocytomas. Solitary mastocytomas are cutaneous lesions, most commonly involving the extremities and trunk. Rubbing a cutaneous mastocytoma lesion leads to the release of histamine and other chemical mediators causing the lesion to become elevated and urticarial, similar to an allergic reaction. We describe a rare location of a presumed solitary mastocytoma of the lower eyelid in a young otherwise healthy child.

Incidence of retinal hemorrhages in abusive head trauma.

PURPOSE: To evaluate whether a relationship exists between the presence of retinal hemorrhages and confessions and/or identified perpetrators in cases of abusive head trauma. METHODS: A retrospective chart review was conducted of all abusive head trauma cases. All cases that met criteria for abusive head trauma were placed into one of three categories: perpetrator confessed (category A), perpetrator identified without confession (category B), and no perpetrator identified (category C). RESULTS: Forty-eight cases met the criteria for abusive head trauma, with 18, 16, and 14 cases in categories A, B, and C, respectively. Retinal hemorrhages were identified in 16 of 18 (88%) cases in category A, 12 of 16 (75%) in category B, and 6 of 14 (43%) in category C. A statistically significant difference regarding the presence of retinal hemorrhages was seen for perpetrator identified (28 of 34 or 82%) compared to no perpetrator identified (6 of 14 or 43%) (P = .034). The difference in retinal hemorrhages was correlated to the higher incidence of acute presentation in the perpetrator identified group (31 of 34 or 91%) compared to that in the perpetrator not identified group (9 of 14 or 64%) (P = .023). CONCLUSION: The incidence of retinal hemorrhages in abusive head trauma for identified perpetrators, regardless of a confession, is similar. However, there is a statistically significant decrease in the incidence of retinal hemorrhages in abusive head trauma when comparing identified perpetrators to non-identified perpetrators. This decreased incidence of retinal hemorrhages was statistically correlated to a lower incidence of acute presentation in victims of abusive head trauma without an identified perpetrator.[J Pediatr Ophthalmol Strabismus 2013;50(3):169-172.].

Exotropia in children with high hyperopia.

PURPOSE: To describe the clinical characteristics, treatment, and subsequent clinical course of children with exotropia and high hyperopia. METHODS: The medical records of 26 patients seen between 1990 and 2009 who had an exotropia and ≥4.00 D of hyperopia were retrospectively reviewed. We analyzed the clinical characteristics, treatments, and subsequent alignment outcomes. RESULTS: A total of 26 patients between the ages of 2.5 months and 9 years were included. Of these, 15 had associated medical conditions or developmental delay. Of 22 patients with measured visual acuities, 19 had amblyopia (10 unilateral, 9 bilateral). None of the patients demonstrated fine stereoacuity. Twenty-three exotropic children were treated with spectacles: 15 were fully corrected, 10 of whose exotropia improved; 8 received partial correction of their hyperopia, 3 of whose exotropia improved. Six patients who presented with large, poorly controlled exotropia and did not improve with spectacle correction required strabismus surgery. CONCLUSIONS: Children with high hyperopia and exotropia are likely to have developmental delay or other systemic diseases, amblyopia, and poor stereopsis. Treatment of high hyperopia in exotropic children with their full cycloplegic refraction can result in excellent alignment.

Congenital absence of the superior oblique tendon in Noonan-neurofibromatosis syndrome.

A 5-year-old girl with Noonan-neurofibromatosis syndrome was diagnosed with bilateral superior oblique palsy. At surgery, the right superior oblique tendon was absent, and further exploration revealed abnormal tissue inserting into Tenon's capsule. Orbital imaging was not performed. Congenital absence of the superior oblique tendon was diagnosed. Although Noonan syndrome is known to have many ocular manifestations, absence of the superior oblique tendon has not been previously reported.

Brainstem tumor presenting with tearing, photophobia, and torticollis.

We discuss a posterior fossa tumor in a 15-month-old girl who presented with photophobia, epiphora, and torticollis. Early diagnosis and long-term follow-up were possible in this patient. Although the tumor was not treated, her symptoms improved by 6 years of age.

Marcus Gunn jaw winking with trigemino-oculomotor synkinesis of the inferior division of the oculomotor nerve.

Synkinetic aberrant innervation syndromes can involve abnormal movements of multiple extraocular and eyelid muscles. The authors describe a case of eyelid elevation associated with simultaneous adduction and depression of the eye upon chewing, sucking on a bottle, or wide opening of the mouth since birth. This represents a unique case of congenital Marcus Gunn jaw winking with trigemino-oculomotor synkinesis involving the inferior branch of the oculomotor nerve. The most likely explanation for these abnormal movements is prenatal aberrant innervation of eyelid and extraocular muscles.

Community-acquired methicillin-resistant Staphylococcus aureus orbital cellulitis in a non-immunocompromised child.

Methicillin-resistant Staphylococcus aureus (MRSA) has recently become a significant pathogen in ocular and systemic disease. Both community- and nosocomial-acquired MRSA orbital cellulitis have been reported in adults. However, there exist only very few published case reports of pediatric MRSA orbital cellulitis, and it is unclear whether these infections were hospital or community acquired and if these children were immunocompromised. We report the first documented case of orbital cellulitis secondary to community-acquired MRSA in a non-immunocompromised child.

Ocular involvement as the initial manifestation of Wegener's granulomatosis in children.

Ophthalmic manifestations are noted in about 50% of adults with Wegener's granulomatosis. Wegener's granulomatosis is a rare disease in the pediatric age group. The disease may present initially with ocular manifestations. We report the largest series to date of children whose ocular findings were the initial presenting signs of Wegener's granulomatosis.

Subretinal hemorrhage masquerading as a hemorrhagic choroidal detachment in a case of nonaccidental trauma.

Retinal hemorrhages are the most commonly reported ocular findings in nonaccidental trauma in children. Other reported ocular findings include perimacular folds, traumatic retinoschisis, choroidal hemorrhages, and retinal detachments. We report the clinical and pathologic findings in a case of a 10-month-old boy who sustained nonaccidental trauma and whose clinical presentation was characteristic of a hemorrhagic choroidal detachment. Postmortem examination revealed a large subretinal hemorrhage, with no evidence of choroidal hemorrhage.