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Biomedical subjects

S Merin

Publications and source records attributed to S Merin.

At least 19 recordsLinked to original sources

Variability of Stickler syndrome.

Stickler syndrome is a dominantly inherited disorder characterized by ocular and nonocular manifestations. The phenotype of the affected patients is known to be variable. Our study of 3 families and a review of the literature show that the variability is mostly interfamilial while in each family less variability is present. In one family all the patients had high myopia and most developed a retinal detachment at a young age. In the second family the major symptoms were cleft palate and characteristic facial changes in presence of mild ocular changes. In the third family, all patients had a marfanoid habitus, high myopia, and mental retardation. Interfamilial variability coupled with intrafamilial similarities in clinical manifestation may indicate that the so-called Stickler syndrome represents in fact a phenotype and not a single genetic entity.

Abnormalities, Multiple

Corneal subepithelial monoclonal kappa IgG deposits in essential cryoglobulinaemia.

A 60-year-old man suffering from photophobia and visual disturbances was found to have bilateral superficial corneal grey-white gelatinous deposits. An abnormal cold-precipitable serum component was found and characterised as homogeneous IgG-kappa immunoglobulin. Corneal immunohistochemical examination revealed subepithelial IgG-kappa deposits, focally replacing Bowman's layer. The patient underwent superficial keratectomy in both eyes with satisfactory visual results.

Cornea

Low-vision aids in Stargardt's disease.

Fifteen patients with juvenile macular degeneration fitted with low-vision aids were followed up for a period of two to three years. About 80% of the patients equipped with visual aids used their devices successfully. It appears that in Stargardt's disease, low-vision aids are more useful than in other maculopathies.

Adolescent

Vitreous fluorophotometry in patients with senile macular degeneration.

Twenty-two phakic eyes of 16 patients with varying stages of senile macular degeneration (SMD) underwent vitreous fluorophotometry. The upper tolerance limit of the penetration ratio in 17 eyes of 17 age-matched controls was 6.33 X 10(-6) min-1. Ten of the 22 eyes with SMD had values exceeding this, indicating abnormal blood-retinal barrier function. When the fluorescence recorded in the vitreous but not related to the local intravitreal dye was evaluated, it was greater in those eyes with more severe forms of the disease. All ten eyes with drusen alone and no SMD had normal fluorophotometry values. Vitreous fluorophotometry may be helpful in the diagnosis and classification of SMD.

Aged

Delayed-onset chloroquine retinopathy.

Delayed-onset chloroquine retinopathy was diagnosed in a patient seven years after cessation of treatment by a total dose of 730 g of chloroquine for rheumatoid arthritis. Visual functions continued to deteriorate after the diagnosis. Periodic examinations by ophthalmoscopy and by functional tests such as EOG and visual fields should be continued in patients at risk of delayed-onset chloroquine retinopathy after discontinuance of the drug.

Arthritis, Rheumatoid

Retinal function in mucolipidosis IV.

In an 18-month-old girl affected by mucolipidosis IV (ML IV) with mild corneal clouding, normal retinal activity was documented by electroretinogram (ERG) and slightly delayed optic pathway conduction was revealed by visual evoked potential (VEP). Re-examination 9 years later disclosed severe retinal alterations resulting in atrophy with reduced photopic and missing scotopic ERG components and flat VEP. These fundoscopic and electrophysiologic deteriorations in ML IV suggest progressive rod-cone impairment similar to tapetoretinal dystrophy.

Corneal Opacity

Central retinal vein occlusions in young adults.

This study was a long term follow-up of 11 young adults aged 15-45 with central retinal vein occlusion (CRVO). Seven patients classified as the ischemic type of CRVO showed a poor visual acuity at the first examination and did not improve throughout the study. In addition, systemic diseases were found in all these patients. Four patients classified as venous stasis retinopathy type of CRVO, had, in contrast, fairly good visual acuity at the first examination and showed additional improvement during the follow-up period. No systemic diseases were detected. Physical examinations are recommended periodically for young adults with ischemic type of central retinal vein occlusion.

Adolescent

Intraocular pressure in retinal vein occlusion.

The intraocular pressure of 59 patients with retinal vein occlusion was studied. Central retinal vein occlusion (CVO) was diagnosed in 24 patients and branch retinal vein occlusion (BVO) was diagnosed in the rest. The intraocular pressure of a sex and age matched group of controls was also studied for comparison. The intraocular pressure in the CVO group were significantly different from those of the matched controls (p less than 0.001). A statistically significant difference of a lesser degree (p less than 0.05) was also found in a comparison of the intraocular pressures of the BVO group with those of their sex and age matched group of controls. These findings may indicate the possible role of increased intraocular pressure in the pathogenesis of CVO and BVO.

Constriction, Pathologic

Ocular side effects of disopyramide.

A patient who suffered from severe decrease of accommodation and pupillary dilatation following the systemic use of disopyramide is described. The ocular side effects when this drug is used in large doses result from its anticholinergic action.

Accommodation, Ocular

The effect of physical activity on the intraocular pressure of glaucomatous patients.

Chronic simple glaucoma patients who performed physical activity had headache and nausea, symptoms that simulated a sudden rise in intraocular pressure. Twelve patients, who were diagnosed as suffering from simple open angle glaucoma, performed multiple bicycle ergometry. The intraocular pressure was measured during the ergometry and was compared to intraocular pressure measurements at rest. A statistically significant decrease was found in intraocular pressure during the ergometry performance. It was concluded that there is no ocular restriction for simple open angle glaucoma patients in performing physical activity.

Adult

Electrophysiologic tests in assessment of senile macular degeneration.

Twelve patients with macular disease were studied. Mean age at the beginning stages of the disease was 61.75 years. They were examined by biomicroscopy, fluorescein angiography, and electrophysiological tests (ERG, EOG, VEP). No relevant correlation could be found between the routinely administered and evaluated ERG and EOG tests and the clinical stage of the disease. The VEP proved a more sensitive means of evaluating macular function in our patients. The possibility of the VEP's being of prognostic importance is raised.

Aged

Myopathy in hyperornithinemic gyrate atrophy of choroid and retina.

Five patients in two families with hyperornithinemia and gyrate atrophy (HOGA) of the choroid and retina are reported. All patients had marked muscle wasting. Biochemical studies revealed high levels of plasma ornithine and low levels of plasma lysine. Muscle biopsies were performed in four patients and showed subsarcolemmal accumulation of pleomorphic mitochondria and tubular aggregates. These findings suggest that muscle wasting in HOGA is associated with a myopathy that is probably secondary to hyperornithinemia and/or hypolysinemia.

Adolescent

Schirmer test and break-up time of tear film in normal subjects.

We examined the precorneal film, the Schirmer test No. 1, and the break-up time tests in 440 healthy young students. There were no statistically significant differences (1) between men and women from the same origin who were brought up in the same environment, (2) between students from different ethnic origins who were brought up in the same environment, and (3) between students of the same origin who were brought up in different environments. Gradual seasonal changes in climatic factors, such as temperature, humidity, visibility, and barometric pressure, seem to have no appreciable effect on the Schirmer test No. 1 or break-up time test.

Adolescent

Metabolic studies in two families with hyperornithinemia and gyrate atrophy of choroid and retina.

Studies on the metabolism of selected amino acids were carried out in five patients with gyrate atrophy of the choroid and retina and four obligate heterozygotes. Hyperornithinemia, hyperornithinuria, and hypolysinemia were found in all patients. In one of the patients, the condition was diagnosed as early as 4 years of age. Ornithine loadings in the affected individuals did not induce the expected elevation of plasma glutamic acid and proline. Oral lysine tolerance tests in patients resulted in (1) enhancement of the hyperornithinuria and hyperlysinuria and (2) elevation of plasma lysine levels, which were below values obtained from normal controls. Supplementation of the regular diet with lysine for a period of 1 month increased plasma lysine but had no effect on plasma ornithine concentration.

Adolescent