Optical coherence tomography findings in Cohen syndrome.

Cohen syndrome is a rare disease that causes myopia and retinal degeneration in the setting of developmental delay and characteristic craniofacial features. We report optical coherence tomography (OCT) abnormalities in 4 patients with Cohen syndrome, 2 of whom have longitudinal follow-up. All subjects had schisis-like changes, with cystoid spaces in the inner retina as well as diffuse outer retinal atrophy sparing the subfoveal region. Ophthalmologic findings in 1 patient led to the work-up that resulted in a diagnosis of Cohen syndrome, suggesting that characteristic retinal abnormalities visualized by fundus examination and OCT may represent distinguishing features of this syndrome.

Phenotypic characterization of epibulbar dermoids.

The purpose of this study was to characterize the phenotypic presentation, clinical course, and outcomes of epibulbar dermoids (EpDs) which are the most common congenital eye tumor in children. Sixty-eight dermoids were identified in 58 eyes of 48 patients of Seattle Children's Hospital between 1981 and 2014 via electronic medical record search. Patients were organized into: "EpD-Only" [patients without other congenital anomalies (n = 13)], "EpD-CFM" [patients with a craniofacial microsomia (CFM) diagnosis (n = 25)], and "EpD-Other" [patients with other congenital anomalies (n = 10)]. All EpD in the EpD-Only group were unilateral and singular, while the EpD-CFM group had six cases with multiple unilateral EpD and five cases with bilateral EpD. In the EpD-Only group, 69 % of EpD were left sided, whereas in the EpD-CFM group, there was no side predisposition. Among both groups, the majority of EpD were limbal or lipodermoids in the inferotemporal quadrant of the eye. Surgery was more common and at a younger age in the EpD-CFM group than the EpD-Only group (56 vs. 38 %, 5.2 vs. 7.0 years). Follow-up surgeries occurred only in the EpD-CFM group (21 %). EpDs were most commonly associated with preauricular tags, congenital heart defects, genitourinary, and nervous system anomalies. Whereas the location and type of EpDs did not significantly differ between the groups, the phenotype in the EpD-Only group appears to be less complex. This may indicate an important difference between EpDs in isolation and those within CFM. Additional studies will further characterize these phenotypes and outcomes.

Visual acuity and astigmatism in periocular infantile hemangiomas treated with oral beta-blocker versus intralesional corticosteroid injection.

BACKGROUND: Periocular infantile hemangiomas (PIH) can induce anisometropic astigmatism, a risk factor for amblyopia. Oral beta-blocker therapy has largely supplanted systemic or intralesional corticosteroids. The purpose of this study was to evaluate the effect and time course of these treatment modalities on visual acuity and induced astigmatism. METHODS: The medical records of patients with PIH treated with oral propanolol between November 2008 and July 2013 were retrospectively reviewed for data on visual acuity and astigmatism. Patients with incomplete pre- and post-treatment ophthalmic examinations were excluded. Results were compared to those of a similar cohort treated with intralesional corticosteroid injection. RESULTS: Mean astigmatism in affected eyes was 1.90 D before propranolol and 1.00 D after; patients showed a monophasic reduction in astigmatism over 12 months. By comparison, patients treated with corticosteroid injection showed a biphasic response, with an immediate steep decrease followed by a slow monophasic decline, paralleling propranolol-treated patients. Oral propranolol treatment caused a 47% reduction in mean induced astigmatism, less than the 63% reduction reported for the cohort treated with corticosteroid. No patient had visual acuity in the affected eye more than 1 standard devation below the age-matched norm, and none experienced significant side effects when treated with oral propranolol. CONCLUSIONS: In this patient cohort oral beta-blocker was well-tolerated. Treatment was therefore often initiated prior to the induction of significant astigmatism, with treatment effects comparable to steroid treatment. Visual outcomes were good. Early treatment may minimize the potential effect of astigmatism on postnatal visual development.

Esotropia greater at distance: children vs adults.

IMPORTANCE: Esotropia greater at distance than at near can be related to abducens palsy or to divergence insufficiency. Mild abduction weakness can be difficult to detect, blurring the distinction between these 2 conditions. OBJECTIVES: To examine the clinical and eye movement findings that distinguish abducens palsy from divergence insufficiency and to account for these findings based on current knowledge of vergence neurophysiology and saccadic adaptation. DESIGN: Retrospective medical record review. SETTING: A pediatric referral center. PARTICIPANTS: The medical records of 32 patients with esotropia greater at distance seen during a 17-year period from August 1989 to July 2006 were reviewed. MAIN OUTCOME MEASURES: Details regarding age, medical history, oculomotor and neurological examinations, and result of any neuroimaging studies were recorded. Eye movements were recorded in 2 subjects using binocular video-oculography. RESULTS: Fifteen children and 17 adults were identified; 93.3% of the children had an underlying central nervous system disorder that coincided with the onset of their esodeviation, and 23.5% of the adult patients had an underlying central nervous system disorder. Eye movement recordings in 2 pediatric patients revealed lateral incomitance suggestive of abducens palsy not detected by clinical examination. CONCLUSIONS AND RELEVANCE: The acute onset of an esodeviation greater at distance in a child is frequently associated with an underlying central nervous system disorder. Several features suggest that the children, unlike the adults, likely had a subtle abducens paresis rather than divergence insufficiency. This was confirmed by formal eye movement studies in 2 children in whom lateral incomitance was not detected clinically. The same pattern of strabismus in an otherwise healthy adult is more likely due to age-related reduction in accommodation, increased ratio of accommodative vergence to accommodation, and relative divergence insufficiency.

Strabismus surgery in a patient with a Boston K-pro keratoprosthesis.

We report the case of a 33-year-old woman with sensory exotropia who developed diplopia following implantation of a Boston K-pro keratoprosthesis. She underwent uneventful, successful strabismus surgery with recovery of stereopsis. To the best of our knowledge, surgical treatment of diplopia related to sensory exotropia in a K-pro patient has not been previously reported.

Chronic keratoconjunctivitis with dermatitis as a presenting sign of child abuse.

A 13-month-old girl presented with chronic keratoconjunctivitis with dermatitis. She was initially diagnosed with corneal abrasion and mild preseptal cellulitis and was treated with topical and oral antibiotics. After failing to respond to standard therapy, she was eventually identified as a victim of abuse. We discuss key findings that could have provoked earlier recognition.

Primary myoepithelioma of the orbit in an infant.

Myoepitheliomas are rare tumors with various growth patterns and cellular variants. Primary myoepithelioma is rare in the orbit, with most previously reported cases involving the lacrimal gland region of adult patients. The authors report the case of a primary orbital soft tissue myoepithelioma in a 3-month-old boy. Diagnostic criteria and management considerations of this unusual tumor presenting in a young child are discussed.