Superior oblique tendon (Brown's) syndrome as the presenting finding in childhood onset HLA-B27-related enthesitis and juvenile idiopathic oligoarticular arthritis.

We report two patients who presented with Brown's syndrome. The first is a 7-year-old boy who at the time of his diagnosis was also found to have enthesitis and HLA-B27 positivity. The second patient was diagnosed with bilateral Brown's syndrome at 13 months of age. At age 7 she developed a persistent oligoarticular arthritis and unilateral anterior iritis consistent with the oligoarticular Juvenile Idiopatic Arthritis (JIA) phenotype. These cases highlight ophthalmologic findings and diagnostic considerations with respect to Brown's syndrome and associated childhood onset rheumatologic disease.

Pituitary stalk duplication in association with moya moya disease and bilateral morning glory disc anomaly - broadening the clinical spectrum of midline defects.

BACKGROUND: Duplication of the pituitary stalk, morning glory disc anomaly and moya moya are rare malformations. The combination of these findings may be syndromic and may have an underlying genetic etiology. METHODS: Case report and review of the literature of neurological, ophthalmological, and neuroradiological findings including ophthalmic examination, MRI and MRA. CASE REPORT: A 2 year-old girl presented with reduced visual acuity and roving eye movements since birth. Ophthalmological workup revealed bilateral morning glory disc anomaly. MRI showed duplication of the pituitary stalk and caudal displacement of the floor of the third ventricle. MRA showed narrowing of the supraclinoid internal carotid arteries with focal narrowing of the proximal middle cerebral arteries consistent with early moya moya disease. CONCLUSIONS: Review of the literature of pituitary gland duplication and of the combination of morning glory disc anomaly and moya moya disease revealed only one previously reported case. However, the spectrum of this possibly syndromic presentation may be much broader and include various types of anterior midline defects and may have a common underlying genetic cause.

Idiopathic macular hypoplasia: a report of four cases and refinement of the phenotype of so-called ateliotic macula.

PURPOSE: To refine the phenotype of idiopathic macular hypoplasia, also referred to as ateliotic macula, by describing a series of cases with this diagnosis. METHODS: A review of the clinical characteristics of four patients as documented in medical records with regard to refractive error, visual acuity, anterior segment examination, retinal findings, and ancillary tests such as electroretinography (ERG). RESULTS: All patients had oval circumscribed or diffuse areas in the posterior pole where the retina appeared not to have developed normally; the fovea was involved in three patients with reduced visual acuity, and one patient had parafoveal lesions with preserved visual acuity. There were three males and one females. Patients' age ranged from 4 to 16 years. Errors of refraction ranged from severe myopia to hypermetropia and mild astigmatism. The anterior segment was normal in all patients. Three patients had strabismus and two had nystagmus. ERG was normal in the one patient in whom it was performed. One patient was mosaic for trisomy of chromosome 9. CONCLUSIONS: The term idiopathic macular hypoplasia can be applied to a spectrum of abnormalities in which a localized area of the posterior pole has a primordial or underdeveloped appearance. Lesions involving the fovea result in poor acuity. Generalized retinal dysfunction is absent. At least one of the genes involved in macular development may be located on chromosome 9.

Congenital synkinetic movements associated with elevation of the upper eyelid.

Congenital synkinetic movement of the upper eyelid is rare. In this case report, we present a 4-year-old patient with a left upper eyelid ptosis that improved on abduction and became worse on adduction. The patient also had congenital esotropia and superior rectus palsy. Strabismus surgery was performed, and excellent surgical results were achieved. A 17-mm left levator aponeurectomy and myectomy was later performed with satisfactory results. Pathology studies of the levator muscle and aponeurosis showed no evidence of inflammation, degeneration, or atrophy. Electron microscopy showed no skeletal muscle abnormality. We postulate that this congenital synkinetic movement reflects an incomplete nerve cell dying process that occurs during the embryonic phase of development.