PubMed Health⌕ Search

Biomedical subjects

L A Bastiaensen

Publications and source records attributed to L A Bastiaensen.

At least 19 recordsLinked to original sources
PubMed1992

Eye movement disorder: an early expression of the myotonic dystrophy gene?

Eye movement recording (EMR) has been performed in 5 asymptomatic myotonic dystrophy (MyD) gene carriers, 7 mildly affected MyD patients, and 23 age- and sex-matched healthy controls. The purpose of the study was to evaluate whether eye movement abnormalities are an early expression of the MyD gene, and to determine the value of this procedure for detection of otherwise asymptomatic gene carriers. EMR did not reveal any abnormalities in the asymptomatic group, but in the mildly affected group showed significantly (P less than 0.01) decreased maximum velocities of the saccades, compared with controls. The results indicate that EMR may aid in the detection of mildly affected MyD patients. However, true presymptomatic diagnosis with EMR has not yet proven possible.

Adult↗
PubMed1990

Disorders of eye movement in myotonic dystrophy.

Horizontal saccades and smooth pursuit eye movements were studied in 26 patients with myotonic dystrophy. Clinical neuro-ophthalmological investigations in 1 patient revealed an inability to achieve a full range of eye movements. Electro-oculography showed a significant decrease of the maximum velocity of the visually-guided saccades in 83% of the patients. Smooth pursuit eye movements were not significantly different from age-matched controls. Visual evoked potential (VEP) latencies (P100) were significantly prolonged compared with controls in 64% of the patients. The saccadic latency of the visually-guided saccades was correlated with the prolonged VEP latencies, indicating that lesions in the primary visual pathways probably contribute to the oculomotor dysfunction. The isolated decrease of the maximum velocity of the saccades in combination with EMG findings favours a peripheral (dystrophic) pathophysiological mechanism.

Adolescent↗
PubMed1987

Neuromuscular investigations in retinitis pigmentosa.

Five patients with primary pigmentary dystrophy of the retina (retinitis pigmentosa) were tested on the integrity of their neuromuscular system. Clinical, electrophysiological and biochemical abnormalities were not found. A skeletal muscular biopsy was performed and histochemical, electron-microscopical and biochemical investigations were carried out. Only aspecific or minimal abnormalities were found. The mitochondrial functioning was especially explored and was found intact. Skeletal muscle examination is of no use in the study of retinitis pigmentosa.

Collagen↗
PubMed1986

Blood dyscrasias and topically applied chloramphenicol in ophthalmology.

The case reports presented so far, concerning a possible causative relationship between the ophthalmological use of chloramphenicol (O-CAP) and blood dyscrasias, are few in number, not always fully documented and therefore not always convincing. The overall use of this drug in a restricted area in the Netherlands was assessed. On a yearly basis 1:29 people used O-CAP. In a four-year period in the same area, 12 patients with aplastic anemia and 190 patients with other cytopenic dyscrasias were found. After exclusion of all cases with other possible causes of the dyscrasia, e.g. cancer and related therapy, other drugs than O-CAP and infectious diseases, 59 cases remained in which a definite cause could not be established. We traced back the use of O-CAP in the relevant period. No dyscrasias were found that unequivocally were caused by O-CAP. The rate of O-CAP use in the dyscrasia-group was approximately equal to that in the population as a whole. Hence we concluded that it is highly improbable that O-CAP played a part in the etiology of blood dyscrasias in the region. Statistical evaluation of material derived from a much larger region may, however, lead to a more differentiated conclusion.

Administration, Topical↗
PubMed1986

Anterior ischemic optic neuropathy: sense and nonsense in diagnosis and treatment.

In 15 consecutive patients with AION the cause was found to be giant-cell arteritis in 3 cases and was thought to be local arteriosclerosis of the posterior ciliary arteries in 12 cases, in spite of rheumatic factors which were found initially. In 87% of cases symptoms or factors indicating generalised arteriosclerosis were found. In one case before the AION cilioretinal emboli had been found. It is reported that the second eye is affected after a varying interval of time in +/- 50% of cases. In our material the arteriosclerotic form of AION occurred bilaterally in +/- 40% of cases with an interval varying from a few days to 5 years. The average interval for this form of AION is 3 years. Cerebral angiography was of no help in tracing the cause of the AION. A fluorescein angiogram is often made too late to show the characteristic circulatory disturbance in the peripapillary choroid and is usually not necessary. Therapy should be started immediately, with large doses of corticosteroids in all cases of AION, until biopsy of the temporal artery proves negative or the ESR is practically normal. Hypertension and diabetes should be treated adequately as protection for the other eye in the arteriosclerotic form of AION. In addition long-term anticoagulant therapy should be considered: a prospective study into this aspect has been started.

Aged↗
PubMed1985

Conjunctival sarcoidosis.

A biopsy from the lower conjunctival fornix, whether or not taken from follicles, is a method which yields a positive result in +/- 25% of cases of suspected sarcoidosis. We saw a patient with chronic recurrent follicular conjunctivitis of the upper eyelid, without further ocular symptoms. He was known to suffer from allergy and chronic respiratory disease. As the conjunctivitis did not improve a biopsy was taken from the conjunctiva of the upper eyelid. The specimen showed non-necrotizing epithelioid-cell granulomata with multinucleate giant cells and asteroid bodies, and an increase in reticular fibres. The diagnosis of sarcoidosis was confirmed by finding parabronchial granulomata and a raised level of angiotensin-converting enzyme in the serum. Prolonged local corticoid therapy then gradually cleared up the conjunctival condition.

Adult↗
PubMed1983

Narrowing of the palpebral fissure in diabetes.

In 204 adult, white diabetics the palpebral fissure was measured and related to the state of metabolic control of the diabetes. A control group was formed of 204 persons matched by age and sex. The average palpebral fissure in the control group was 9.9 mm: there was a slight, but not significant, difference between the age groups and the sexes. In diabetics who were not insulin dependent the average width of the palpebral fissure was found to be 9.4 mm; in severe chronic deregulation of the diabetes, however, an average palpebral fissure of 8.0 mm was found, a significant narrowing. In insulin-dependent diabetics the average width of the palpebral fissure was 8.3 mm. This significant narrowing also increased if there was severe chronic deregulation of the diabetes. The average palpebral fissure associated with proliferative retinopathy in insulin-dependent type 1 diabetics was 6.0 mm (nearly 4 X standard deviation). This ptosis in diabetes is very probably due to chronic tissue hypoxia, to which the levator palpebrae muscle is probably extra sensitive, and in which thickening of the basal membrane of the capillaries may be one of the most important factors.

Adult↗
PubMed1983

Patterned anomalies of the retinal pigment epithelium: dystrophy or syndrome?

Under the heading of patterned dystrophies of the central pigment epithelium have been included, in some recent publications, the reticular and macroreticular dystrophies described respectively by Sjögren and Mesker et al. (both probably autosomal recessive hereditary conditions) as well as Deutman's butterfly-shaped dystrophy and fundus pulverulentus (both with autosomal dominant heredity), occurring in a few families. We have recently seen 6 patients with patterned anomalies of the central retinal pigment epithelium. The cause of this pigment anomaly was different in each case: Stargardt's macular degeneration associated with fundus flavimaculatus, drusen of Bruch's membrane, choroidal folds, adult (non-hereditary) vitelliform degeneration, bull's eye degeneration of the macula in chronic rheumatoid arthritis, and detachment of the pigment epithelium. In only one case, that of Stargardt's degeneration, was the condition hereditary (autosomal recessive) so that the term dystrophy (= hereditary degeneration) would be justified; all the other cases were non-hereditary conditions. The central retinal pigment epithelium can only react in a limited number of ways to pathological stimuli: one way is the patterned distribution of pigment. This argues against the concept of patterned dystrophy of the retinal pigment epithelium, especially as under this heading conditions with different hereditary characteristics are lumped together.

Adult↗
PubMed1982

Kearns syndrome: a heterogeneous group of disorders with CPEO, or a nosological entity?

In connection with 4 new cases of Kearns syndrome (multisystem form of mitochondrial CPEO), the condition was found to be present in slight to oligosymptomatic form in all 4 families. The marker symptom in subclinical patients was nearly always ptosis (sometimes very slight) and occasionally diabetes. In the literature other endocrine disorders, retinal anomalies, deafness, growth disturbances, etc., have been noted as subclinical symptoms in former generations. Heredity appears to be autosomal dominant in these 4 families, with very variable expressivity. The possibility that one gene is responsible for the disease seems to be plausible, but the marked variation in expressivity suggests a modifying influence of other alleles; in this sense, therefore, one may speak of multifactor inheritance. Supporting facts could also be found in the literature, where there was autosomal dominant heredity of the disease-carrying gene, but for its complete expression 'amplifying' factors (alleles) were needed. The pleiotropia of the disease-carrying gene is explained by a mitochondrial disorder of various organs. On the basis of the heredity, therefore, Kearns syndrome is not a syndrome but a disease. The most serious, most progressive and most extensive (multisystem) variant of Kearns disease is the infantile form, known as the 'Kearns-Sayre syndrome. When the expressivity of the disease is less extensive it usually occurs later in life and is less progressive: the adult form of Kearns disease.

Adolescent↗
PubMed1982

X-recessive angiopathic opticopathy.

A familial optic atrophy with X-recessive heredity, distinct from Leber's optic atrophy (LOA), is described. The symptoms are: slight to moderate pallor of the papillomacular bundle at the disc possibly preceded by some hyperaemia of the disc, telangiectasia on the disc with normal retinal vessels, occurrence in the second decade of life, slow progression with often subclinical visual loss, a small relative central scotoma with an intact peripheral visual field, slight acquired tritanopia and deuteranopia, and vasomotor headaches. The disease may exhibit severe exacerbations with loss of vision to 1/60, provoked by vasoconstrictors and reacting favourably to vasodilators. This acute loss of vision is associated with ischaemia of the disc, a deep central scotoma with marked disturbance of colour vision in the form of an acquired deuteranopia, and sensoparalytic pupils. This is followed by increasing pallor of the disc, slow resolution of the central scotoma with a permanent reduction in the central light sensitivity, markedly disturbed Visual Evoked Potentials (VEP), acquired deuteranopia and normal ERG and EOG. In contrast to all hereditary opticopathies so far described, fluorescein angiography showed a disturbance of perfusion in the peripapillary choroid and the prelaminar part of the optic nerve. A similar disturbance of perfusion is described in anterior ischaemic optic neuropathy (AION) and low-tension glaucoma. To these acquired, non-hereditary recessive vascular opticopathies, which usually occur late in life, will have to be added the X-recessive vascular optic atrophy which we describe here, for which we propose the name: X-recessive angiopathic opticopathy. The differential diagnosis from some other hereditary, especially X-recessive, optic atrophies is discussed.

Adolescent↗