Eric P. Shakin

Clinicopathologic correlation of a prepapillary vascular loop.

The clinical, fluorescein angiographic, and histopathologic features of a prepapillary vascular loop are described in a patient whose eye was obtained postmortem. The prepapillary vascular loop communicated with the retinal arterial system and did not have an internal elastic lamina. It was supported by a connective tissue sheath that was lined by a cellular lamina. The cellular lamina was continuous with the inner retina, isolating the vascular loop from the vitreous. The histologic findings were correlated with the clinical examination and fluorescein angiography.

The with Electro-oculogram in Choroidal Melanoma Eyes

The electro-oculogram (EOG) in the involved eyes of 20 patients with a choroidal melanoma was compared to the EOG in the uninvolved eyes of these 20 patients and to the EOG in both eyes of 10 patients with a choroidal nevus in one eye and 19 normal control patients. A statistically significant reduction in the EOG occurred in eyes with melanomas compared to patients with nevi. No difference was found between the EOG of normals and the uninvolved eye of melanoma patients. Patients with nevi did not differ from normals. This observation was independent of tumor size and was not related to the extent of retinal detachment.

Traumatic extrusion of posterior chamber lenses: clinical and experimental correlations.

ABSTRACT Five cases of traumatic expulsion of posterior chamber intraocular lens implants are presented. The syndrome is characterized by expulsion of the lens, iris damage, and intraocular hemorrhage. In experiments with donor human eyes we were able to reproduce the syndrome with 0.68 joules of energy, which is well below that encountered in common environmental situations.

Autosomal dominant pattern dystrophy: identification of a novel splice site mutation in the peripherin/RDS gene.

Purpose: To describe the clinical features of and identify the mutation responsible for an autosomal dominant pattern dystrophy occurring in a three-generation family. Methods: Five affected family members underwent clinical examination and additional testing including intravenous fluorescein angiography where indicated. Mutation screening of the peripherin/RDS gene was performed. Results: Visual acuity ranged from 20/20 to counting fingers. All patients who reported vision loss noted the onset after the age of 40 years. Predominantly perifoveal, discrete, retinal pigment epithelial changes were present in all patients. Two patients had extensive peripheral yellowish flecks, and one had an atrophic macular scar. Mutation screening of the complete peripherin/RDS coding sequence and exon/intron boundaries revealed a novel splice site mutation. Conclusion: A three-generation family with an autosomal dominant pattern dystrophy arising from a previously unreported splice site mutation in the RDS gene is described.