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Biomedical subjects

A J Pinckers

Publications and source records attributed to A J Pinckers.

At least 55 records · Page 3Linked to original sources
PubMed1985

Evolution of benign concentric annular macular dystrophy.

In 1974, Deutman described a family with an autosomal dominantly inherited macular dystrophy that he termed "benign concentric annular macular (bull's-eye) dystrophy." Ten years later, we performed a follow-up examination. Some patients complained of deterioration of visual acuity, night vision, and color vision. The macular dystrophy had progressed. The fundus periphery was more involved and in two patients there were bone corpuscle-like pigmentations. Electrophysiologic examination showed increased photoreceptor dysfunction with equal involvement of the rod and cone system. The patients had an acquired type III blue-yellow color vision defect with pseudoprotanomaly.

Adult↗
PubMed1985

X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery.

Stapes gusher is a rare and usually unexpected complication of stapes surgery. This complication will inevitably be encountered during stapes surgery in all affected males with the X-linked, progressive mixed deafness syndrome. The opportunity of studying eight affected males in a large Dutch family with audiometry, vestibulometry, and polytomography was used to identify specific features. Awareness of these features will assist the otologist in recognizing new cases preoperatively.

Child↗
PubMed1984

Generalized hypertrophic myopathy associated with chorioretinal dystrophy and struma lymphomatosa--a case report.

A case is reported of a girl suffering from generalized hypertrophic myopathy and chorioretinal dystrophy since early infancy. A muscle biopsy taken at age seven revealed a general enlargement of the muscle fibers with a concomitant extensive degeneration of myofibrils. At age fourteen, the patient developed a struma lymphomatosa (Hashimoto). This report is the first describing an association of these three diseases.

Adolescent↗
PubMed1983

Visual acuity, spectacle blur and slit-lamp biomicroscopy on asymptomatic contact-lens-wearing recruits.

Refraction data of 644 Dutch Army and Air Force recruits wearing contact lenses or spectacles were statistically compiled and correlated with the type of lenses worn. Visual acuity with contact lenses was far from optimal because the power of the lenses was incorrect or the optical quality poor. This applied particularly to soft contact lenses. On the other hand, spectacle blur was rare with soft lenses and less evident with gas-permeable hard lenses compared with conventional hard lenses. Less corneal staining occurred with gas-permeable hard lenses compared with conventional hard lenses (P=0.02). Corneal neovascularization, conjunctival hyperaemia, papillary changes in the tarsal conjunctiva, corneal opacifications and ghost vessels were seen more often in wearers of soft rather than hard lenses. In this study, in which we examined objective parameters of contact lens efficiency, the gas-permeable hard lenses appeared most favourable.

Conjunctival Diseases↗
PubMed1982

Classification of complete and incomplete autosomal recessive achromatopsia.

We studied color vision in 32 patients with autosomal recessive achromatopsia. Color matching revealed complete achromatopsia (rod monochromasy) in ten patients (Group I) and incomplete achromatopsia in the remaining twenty-two patients. Amongst the incomplete achromats, were three groups distinguishable by their color matching. Patients in Group II were dichromats; their color matches were mediated by rods and MWS (middle-wavelength sensitive) cones. Patients in Groups III and IV were trichromats. Color matches of patients in Group III were mediated by rods, LWS (long-wavelength sensitive) cones and MWS cones. Group III patients showed no evidence of SWS (short-wavelength sensitive) cones. Color matches of patients in Group IV were mediated by rods, LWS cones and SWS cones; color matching did not reveal MWS cones.

Adolescent↗
PubMed1982

Peripheral and central myelinopathy in Cockayne's syndrome. Report of 3 siblings.

Three siblings with Cockayne's syndrome are reported. Sural nerve biopsies revealed segmental de- and remyelination with onion-bulb formation. Disturbed visual and brain-stem auditory evoked responses indicated demyelination of the central nervous system. The peripheral and central myelinopathy increased with age, suggesting a progressive disorder. Our observations support the theory of Cockayne's syndrome being a leukodystrophy.

Adolescent↗
PubMed1982

Cell-mediated immune reactivity to ocular antigens in rheumatoid arthritis.

Fourteen patients with rheumatoid arthritis were tested for the presence of cell-mediated immune reactivity to various ocular antigens by means of the leucocyte migration inhibition test. A significant difference in leucocyte migration was found between patients and healthy controls after incubation of their cells with purified rhodopsin, uveal pigment granules or soluble uveal antigens, but not with rod outer segments or soluble retinal antigens. Some indications have been obtained that the sensitization to rhodopsin in fact originates from a sensitization to connective tissue structural glycoproteins.

Adult↗
PubMed1980

Immune reactivity to different retinal antigens in patients suffering from retinitis pigmentosa.

The immune status of patients suffering from different types of retinitis pigmentosa has been investigated. The lymphocytes of these patients could be stimulated by incubation with human soluble retinal antigens as well as with bovine rod outer segments. The results suggest the involvement of the cellular immune system in retinitis pigmentosa. The leukocyte migration inhibition test also pointed in that way, especially if bovine rhodopsin was used as the antigen. The complement fixation test suggested the presence of a nonspecific weak antibody activity in the blood of retinitis pigmentosa patients as well as of controls. This activity seemed predominantly to be directed to the insoluble fraction of human retinas. On the basis of the findings we conclude that patients suffering from retinitis pigmentosa may become sensitized to retinal antigens, especially to those localized in the rod outer segments. This sensitization concerns the cell-mediated immune system and seems not to be correlated with a special type of the disease.

Adolescent↗
PubMed1979

Leber's congenital amaurosis as conceived by Leber.

Not being satisfied with the present-day diagnosis of Leber's congenital amaurosis, the original papers written by Leber were studied. It gradually became clear that what Leber had in mind with congenital amaurosis is roughly the same as what we know as neuronal ceroid lipofuscinosis. The present diagnosis of Leber's congenital amaurosis is not a clinical syndrome but an aspecific symptom complex.

Blindness↗
PubMed1978

Retinal dystrophies associated with peripheral retinal vasculopathy.

A pair of identical twins with cone-rod dystrophy and 1 patient with dominant retinitis pigmentosa are reported who had a peculiar vascular retinopathy characterised by perivenous accumulation of fluorescein in the temporal periphery. Other retinal dystrophies associated with leaking retinal vessels are discussed.

Adult↗
PubMed1977

Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder, and other abnormalities (Wolfram syndrome). A review of 88 cases from the literature with personal observations on 3 new patients.

A review of 88 cases from the literature with personal observations on 3 new patients is given of the syndrome featured by juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder and other abnormalities. The postmortem in one of our cases is mentioned. The pattern of inheritance is autosomal recessive. The interpretation of the data on diabetes insipidus from the literature and in our three patients is also discussed. It can only be stated that neurohypophyseal diabetes insipidus can be a component of the syndrome and that in many cases--particularly in the presence of lesions of the efferent urinary tract--the possibility of nephrogenous diabetes insipidus can not be excluded with certainty. It seems probable that the same mechanism can be held responsible for the lesions of the olfactory, optic, vestibular and cochlear nerves, the hypophyseal form of diabetes insipidus, retarded sexual maturation, abnormal pupillary reaction, myelopathy and the electro-encephalographic, electroneurological and electromyographic changes in the Wolfram syndrome. The process underlying this affection of neural structures remains obscure.

Adolescent↗
PubMed1976

Dominantly inherited cystoid macular edema.

An apparently autosomal-dominant macular dystrophy occurred in three pedigrees with the presenting signs of typical cystoid macular edema due to leaking perimacular capillaries. Other striking features were retinal capillary leakage all over the posterior pole of the eye, whitish punctate deposits in the vitreous body, a normal electroretinogram, a subnormal electro-oculogram, and moderate to high hyperopia. In later or more advanced stages the macula developed a central zone of "beaten bronze" atrophy. Strabismus occurred frequently.

Adolescent↗