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Biomedical subjects

R C Polomeno

Publications and source records attributed to R C Polomeno.

43 records · Page 3Linked to original sources
PubMed1978

Optic nerve in globoid leukodystrophy (Krabbe's disease). Ultrastructural changes.

Globoid leukodystrophy (Krabbe's disease) was diagnosed in an infant in whom a progressive neurological disorder and optic atrophy developed. At autopsy, ultrastructural examination of the optic nerves and cerebral white matter revealed characteristic tubular inclusions in globoid-epithelioid cells. Thinning of the nerve fiber and ganglion cell layers of the retina appeared to be due to retrograde degeneration of the optic nerve related to the abnormal metabolism of myelin. We discuss the pathogenesis of the clinical and pathological ocular findings, with regard to the inherited absence of the enzyme galactocerebroside beta-galactosidase and the accumulation in the optic nerve and brain of its substrates, galactocerebroside and psychosine.

Brain↗
PubMed1974

Stickler's syndrome (hereditary progressive arthro-ophthalmopathy).

The clinical features of Stickler's syndrome are described in two families with a total of 22 affected members and compared with those of the three previously reported families. Progressive joint degeneration (85%), myopia (83%) and retinal detachment (61%) are the most frequent manifestations. Cleft palate (28%), micrognathia (17%) and sensorineural hearing loss (9%) are also liable to occur in affected individuals. Inheritance is autosomal dominant with virtually complete penetrance. Genetic counselling is extremely important and relatively straightforward since most of the findings are manifest in the first two decades of life and represent severe incapacities to the affected families. All six of the affected individuals tested had increased urinary hydroxyproline excretion, a feature that may lead to earlier postnatal and possibly prenatal diagnosis.

Adolescent↗
PubMedDate not supplied

Monocular contribution to the peak time of the binocular pattern visual evoked potential.

The contribution of each monocular pathway to the timing of the binocular pattern visual evoked potential was assessed in situations where a significant interocular timing discrepancy was observed. Monocular and binocular pattern visual evoked potentials to 0.5 degree checks were recorded from normal subjects, normal subjects in whom one eye was blurred, patients with monocular amblyopia, and patients with resolved unilateral optic neuritis. Normal subjects showed facilitation, while suppression was evidenced in subjects with monocular blurring. In patients with amblyopia, the affected pathway had no effect on binocular pattern visual evoked potential latency, suggesting that the amblyopic eye was suppressed. In contrast, all patients with optic neuritis showed binocular averaging. Our results show that different forms of binocular interaction are evidenced in normal subjects, in amblyopia and in optic neuritis, and suggest that a comparative analysis of monocular and binocular pattern visual evoked potential peak times brings valuable information to the clinical evaluation that could be used to distinguish disease processes further.

Adolescent↗
PubMedDate not supplied

Herpes simplex keratitis and amblyopia.

Herpes simplex keratitis can cause severe loss of vision in children. The findings in five children show that amblyopia is caused by stimulus deprivation and/or anisometropia. Early medical treatment, occlusion therapy, and frequent refractions are crucial for a good visual prognosis.

Adolescent↗