Prevalence of visual impairment, ocular pathology, and ability to achieve a thorough examination in an eye clinic for patients with disabilities.

PURPOSE: To report the demographics, types of visual/ocular pathology, and ability to achieve a comprehensive examination at a university-based outpatient clinic for individuals of all ages with disabilities. METHODS: The medical records for all patients with disabilities examined from January 2014 through December 2016 at our monthly clinic staffed by a pediatric ophthalmologist were reviewed retrospectively. Descriptive statistics were calculated for demographics, visual acuity, ocular diagnoses, nonocular diagnoses, refractive error, and achievable examination data. Ocular diagnoses were categorized as treatable or nontreatable and noted if newly diagnosed. RESULTS: A total of 178 patients with disabilities were examined at 281 visits; 119 patients (66.9%) were nonverbal. Of the 178, 140 patients (78.7%) had pathology or refractive error requiring glasses; 126 had pathology and 14 had no pathology. Of the 126 patients with pathology, 113 had treatable ocular diagnoses and 13 had only nontreatable diagnoses. Of the 113 with treatable conditions, 56 (49.6%) were newly diagnosed. Cycloplegic refraction was attained in 168 patients (94.4%); 85 had a significant refractive error, 66 of whom had another treatable ocular diagnosis. Lack of cooperation precluded slit-lamp examination in 1 patient, cycloplegic refraction in 3 (1.7%), dilated fundus examination in 4 (2.2%), and iCare or Goldmann intraocular pressure measurement in 28 (15.7%). CONCLUSIONS: Patients with disabilities in our cohort had a high prevalence of ocular pathology, which was often treatable and previously unrecognized. Refractive errors were common and frequently accompanied by other treatable conditions. A thorough ophthalmic examination was achievable in most individuals with disabilities.

Calcified scleral choristoma in organoid nevus syndrome simulating retinoblastoma.

A child referred for management of retinoblastoma who alternatively had a calcified scleral choristoma as part of previously undiagnosed organoid nevus syndrome is described. A 31-month-old male infant with scalp alopecia was referred for retinoblastoma management after a calcified mass in his left eye was found. Ophthalmic examination revealed the mass was of choroidal or scleral origin, underlying the retina. The amelanotic circumpapillary mass extended superonasally in a geographic configuration and measured 14×12 mm. There was no subretinal fluid, hemorrhage, feeder vessels, or tumor seeding. Ocular ultrasonography confirmed a homogeneous calcified intraocular mass 3.1 mm in thickness. Enhanced depth imaging optical coherence tomography revealed that the lesion was located within the sclera compressing the overlying choroidal tissue. Further evaluation disclosed cutaneous aplasia cutis congenita with nevus sebaceous of Jadassohn. Magnetic resonance imaging disclosed an arachnoid cyst of the brain. Later, optical coherence tomography revealed the mass to be in the deep choroid or within the sclera. This constellation of ocular, cutaneous, and neurological features were suggestive of organoid nevus syndrome. At the 2-year follow-up, the findings were stable. The calcified choristoma of organoid nevus syndrome, located within the sclera in this case, has distinctive clinical features that differentiate this benign tumor from retinoblastoma.

Pediatric horner syndrome: etiologies and roles of imaging and urine studies to detect neuroblastoma and other responsible mass lesions.

PURPOSE: To evaluate the frequency of etiologies of Horner syndrome in children and suggest an imaging and laboratory diagnostic protocol to evaluate for neuroblastoma and other lesions in a child presenting with Horner syndrome and no known cause. DESIGN: Retrospective chart and data review. METHODS: A retrospective review of all children seen at a large pediatric neuro-ophthalmology referral center with a diagnosis of Horner syndrome between 1993 and 2005 with particular attention to underlying etiologies and the results of imaging and urine catecholamine studies. RESULTS: Fifty-six children met criteria for Horner syndrome and further review. Twenty-eight children (50%) had no previously identified cause for Horner syndrome. Of these children, 24 (85.7%) had urine catecholamine metabolite studies, and all had negative results. Twenty (71.4%) had complete modern imaging of the brain, neck, and chest. Of the 18 children who had complete imaging and urine studies, responsible mass lesions were found in six (33%). Four had neuroblastoma, one had Ewing sarcoma, and the other had juvenile xanthogranuloma. Of all patients (diagnosis known and unknown), neoplasm was the etiology in 13 of 56 (23%) of patients. CONCLUSIONS: We confirm that Horner syndrome in a child of any age without a surgical history requires a complete examination to exclude a mass lesion. In such patients, we recommend brain, neck, and chest magnetic resonance imaging (MRI) with and without contrast as well as urinary catecholamine metabolite testing. However, imaging is more sensitive than urine testing in this setting.