Ralph C. Eagle

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Dystroglycanopathies are a subtype of congenital muscular dystrophy of varying severity that can affect the brain and eyes, ranging from Walker-Warburg syndrome with severe brain malformation to milder congenital muscular dystrophy presentations with affected or normal cognition and later onset. Mutations in dystroglycanopathy genes affect a specific(More)
OBJECTIVES The clinical diagnosis of giant cell arteritis may be confirmed with a biopsy of the superficial temporal artery. Because of "skip lesions," a histologic diagnosis of giant cell arteritis may be missed with a unilateral biopsy. The authors report a study that investigates whether a biopsy of the contralateral superficial temporal artery provides(More)
PURPOSE Hereditary hyperferritinemia cataract syndrome (HHCS) is a genetic disease defined by cataracts, hyperferritinemia, and ferritin light-chain (L-ferritin) gene mutations. HHCS was diagnosed in this study in one of the first families known to be affected in the United States, and the basis of lens opacities in HHCS was determined. METHODS DNA(More)
Intraocular medulloepithelioma (IO MEPL) is an uncommon embryonal neuroepithelial neoplasm of the eye. These ocular neoplasms have been compared with intracranial medulloepitheliomas or other histologic variants of CNS embryonal tumor with multilayered rosettes (CNS ETMR) due to their morphological mimicry. We performed comprehensive molecular analysis to(More)
OBJECTIVE To describe histopathologic features of anterior optic nerves of 12 eyes enucleated for sustained high ocular pressure from iris-ciliary body melanomas in 10 and choroidal melanomas with chronic angle closure in 2. METHODS In this retrospective study, we analyzed cases indexed in 2 eye pathology laboratories and reviewed the pertinent(More)
The role of heterozygous galactokinase deficiency in the development of presenile cataracts is presently undetermined. Erythrocyte galactokinase activity was measured from 95 normal Caucasian subjects and from 39 Caucasian patients who had developed idiopathic bilateral cataracts between ages 20 and 55. The diagnosis of heterozygous galactokinase deficiency(More)
Astrocytic hamartomas of the retina are the principal ocular manifestation of tuberous sclerosis complex. Iris abnormalities are rare in tuberous sclerosis complex and include focal areas of stromal depigmentation and atypical colobomata. We describe 2 patients who were found on histopathological examination to have lesions consistent with hamartomas of the(More)
Nocardia is a Gram positive, aerobic, filamentous branching micro-organism that rarely causes human infection. When infection does occur it usually takes the form of a subcutaneous abscess or a pneumonia-like illness. We describe a case of a patient with chronic lymphocytic leukaemia who developed painless loss of vision in the right eye secondary to a(More)