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Biomedical subjects

R C Polomeno

Publications and source records attributed to R C Polomeno.

At least 37 records · Page 2Linked to original sources
PubMed1987

Norrie's disease in a French-Canadian kindred: attempt to detect carriers by DNA analysis.

In a French-Canadian kindred four male cousins are affected with Norrie's disease, a rare X-linked recessive disorder. Three have university education, and the fourth has some developmental delay. Only one is microcephalic. All have mild to severe hearing deficit, although only three were aware of their hearing loss. Linkage analysis of DNA from family members with the probe L1.28 failed to detect female carriers.

Adult↗
PubMed1985

The Okihiro syndrome of Duane anomaly, radial ray abnormalities, and deafness.

We report on a child with Duane anomaly, deafness, cervical spine, and radial ray abnormalities. A sister of the proposita had hemifacial microsomia, cervical abnormalities, and hypoplasia of the thenar eminence. Four relatives had hypoplasia of the thenar eminence. A fifth had preaxial polydactyly. Duane anomaly was present in two sixth-degree relatives. This appears to be an autosomal dominant trait. Singly or in combination the abnormalities seen in this family have all been described in association with Duane anomaly. Their occurrence in the same family suggests that they are not independent entities but represent pleiotropic effects of the same gene.

Abnormalities, Multiple↗
PubMed1983

Waardenburg syndrome--penetrance of major signs.

We have estimated that 83% of individuals carrying the gene for Waardenburg syndrome type I show penetrance of the gene as measured by dystopia canthorum. This is lower than previous estimates, which failed to consider the frequency of equivocal dystopia in the general population. The addition of three other major signs (hearing loss, white forelock, and premature graying of the hair or vitiligo) does not substantially increase the discrimination of gene carriers (85% versus 83%). We estimate that about 75% of the first-degree relatives of probands can be assigned as normal or a gene carrier on the basis of the four major signs.

Abnormalities, Multiple↗
PubMed1983

Lenz microphthalmia: a malformation syndrome with variable expression of multiple congenital anomalies.

Lenz microphthalmia is a syndrome of microphthalmia accompanied by multiple congenital anomalies, none of which is unique to the syndrome. The patient described in this paper had, in addition to the microphthalmia, dysmorphic facies and dental anomalies, several features not previously described in this syndrome: synophrys, an isolated cleft of the soft palate, a webbed neck and sacral pits. Other congenital syndromes associated with microphthalmia (oculodentodigital dysplasia, cryptophthalmos and the 10q+ syndrome) were excluded. The frequency of the anomalies described in 22 case reports is presented as a guide to diagnosis in isolated cases.

Abnormalities, Multiple↗
PubMed1983

The photopic electroretinogram in congenital stationary night blindness with myopia.

Previous studies have reported that subjects affected with congenital stationary night blindness and myopia demonstrated some photopic (cone) abnormalities in their electroretinogram (ERG). By comparing the photopic ERG elicited with a threshold and a suprathreshold stimulus it was found that, at threshold, no significant differences were noted both in the peak time and in the amplitude of ERGs evoked from CSNB and normal subjects. However, a more powerful stimulus (16 times the threshold) yields a significant difference in the ERGs recorded from the two groups. ERGs recorded from CSNB patients are decreased in amplitude with a b-wave peak time that remains normal. First derivative analysis of the ERG wave along with a selective recording of the oscillatory components of the ERG suggest that the only visible anomaly in the suprathreshold photopic ERG of CSNB patients is an absence of the two oscillations normally seen on the ascending portion of the b-wave. Data obtained on normal subjects are also reported that try to explain the functional significance of these two oscillatory potentials.

Electroretinography↗
PubMed1983

Further observations on the auditory brainstem response in Duane's syndrome.

Auditory brainstem responses were recorded in 16 patients with Duane's syndrome. There were no significant differences in the mean wave and interwave latencies between the patients and 16 neurologically and audiologically normal control subjects, although 2 patients had responses from one side that were of increased latency. A consistent relation between the auditory brainstem response and the affected eye was not found; therefore, the data from this study do not support the findings of a previous report on this subject.

Adolescent↗
PubMed1983

Optic disc colobomas.

This paper describes optic disc colobomas in a father and his twin sons. Two of the six eyes had associated anterior colobomas (one of the iris and the other of the peripheral retina), and there was evidence of abnormal development of Bergmeister's papilla in the father's left eye.

Child↗
PubMed1983

Unilateral congenital ptosis and amblyopia.

Amblyopia was detected in 15 of 55 children with unilateral congenital ptosis. Anisometropia was the main cause of the amblyopia in 10 cases, and strabismus alone was the cause in 2 cases. In three cases amblyopia developed after ptosis surgery.

Adolescent↗
PubMed1982

Cataracts and ketotic hypoglycemia.

Of 40 patients with ketotic hypoglycemia, 15 (nine boys and six girls) developed cataracts. The mean age at onset of the first hypoglycemic attack was 20 months, and the average age at the time the cataracts were discovered was 3 1/4 years. The average birth weight of 14 children was 2060 g. The cataracts were bilateral in all but one case. Seven patients (11 eyes, bilateral in four patients) developed complete cataracts. Despite aphakic correction and occlusion therapy, the major cause of visual loss after cataract surgery was stimulus deprivation amblyopia. Other ocular abnormalities included strabismus and jerky horizontal nystagmus. Neurologic impairment--epilepsy, psychomotor retardation, and/or electroencephalographic abnormalities--was present in over one half of the patients. All children with ketotic hypoglycemia should be referred promptly for an ophthalmic examination so that appropriate therapy can be implemented early.

Age Factors↗
PubMed1982

Ocular manifestations of Kawasaki disease (mucocutaneous lymph node syndrome).

This paper describes nine patients, five girls and four boys aged 4 months to 7 years (mean 3 3/4 years), who had the clinical and laboratory features of Kawasaki disease (mucocutaneous lymph node syndrome). Eight of them had mild to moderate anterior uveitis, and one child showed choroidal, retinal and vitreous changes in one eye that caused a severe visual loss. Recognition of this disease is important, particularly since 1% to 2% of patients under 2 years of age die suddenly from coronary arteritis.

Child↗
PubMed1981

Consecutive exotropia after correction of hyperopia.

A study was done of 22 children in whom exotropia developed following correction of hyperopia because of accommodative esotropia that had not been corrected surgically. The early onset of esotropia and high degree of hyperopia seemed to predispose to the spontaneous development of exotropia. Reduction of the hyperopia by 50% to 60% resulted in satisfactory realignment of the eyes and some form of binocularity.

Accommodation, Ocular↗
PubMed1980

Sandhoff's disease (GM2 gangliosidosis type 2). Histopathology and ultrastructure of the eye.

Sandhoff's disease (GM2 gangliosidosis type 2) was diagnosed in an infant in whom a progressive neurologic disorder and cherry-red foveal spots developed. At autopsy, ultrastructural examination of the retina and optic nerve disclosed abundant pleomorphic storage cytosomes in all neurons of the retina, including the inner segments of the photoreceptor cells, and in glial cells of the optic nerve. Electron microscopy of the cornea showed, within the keratocytes, distended clear lysosomes that contained some fibrillogranular material and an occasional collection of lamellae. We discuss the pathogenesis of the clinical and pathologic ocular findings with regard to the inherited absence of the enzymes hexosaminidase A and B and an accumulation of the substrates, GM2 ganglioside and asialo GM2, in the nervous system (including retina and optic nerve) and globoside and other hexosamine-containing substances in the viscera (including cornea).

Adolescent↗
PubMed1980

Ocular defects and short stature.

The presence of ocular anomalies in a short child raises the possibility of hypothalamic-pituitary dysfunction or other intracranial abnormalities. The ocular, endocrine and neurologic findings in three children with short stature are described in this article. The first child had a large basal encephalocele, agenesis of the corpus callosum, mild optic atrophy in one eye, a retinal pigment epithelial defect in the other eye and bitemporal hemianopia; the second child had septo-optic dysplasia and the third child had Rieger's anomaly. All had deficient or abnormal growth hormone responses and two of the children had other pituitary hormonal abnormalities. It is suggested that an arrest of development during organogenesis can produce a spectrum of abnormalities involving ocular, endocrine and neurologic structures. Early diagnosis is important so that endocrinologic and neurologic investigations can be undertaken and appropriate therapy implemented.

Adolescent↗
PubMed1979

Congenital miosis.

The inheritance of congenital miosis in 2 pedigrees is described. The inheritance was autosomal dominant in one and autosomal recessive in the other. The pupils were 0.5-2.5 mm diameter, reacted normally to light and accommodation but dilated poorly with mydriatics. In both pedigrees, the affected members had enlarged corneas. The five members in the autosomal dominant family were myopic and had translucent peripheral irides. Iridodonesis was presented in both members of the autosomal recessive pedigree. The embryology and innervation of the iris muscles together with the ocular abnormalities and syndromes associated with congenital miosis are reviewed.

Adult↗
PubMed1979

Total transient visual loss and orbital foreign bodies.

Two children recovered vision after penetrating injury of the orbit by wood had produced sudden blindness. Absent light perception demands urgent action as early visual loss does not necessarily indicate a poor prognosis. The depth and direction of penetration and size of wooden fragments is difficult to assess clinically and radiologically. Immediate and delayed neurological complications should always be anticipated. Removal of all fragments of wood is of paramount importance in restoring visual acuity. Prolonged visual loss with symptoms and signs of retained foreign body demands vigorous management.

Blindness↗