Johan R M Cruysberg

Stickler and Marshall syndromes are dominantly inherited chondrodysplasias characterized by midfacial hypoplasia, high myopia, and sensorineural-hearing deficit. Since the characteristics of these syndromes overlap, it has been argued whether they are distinct entities or different manifestations of a single syndrome. Several mutations causing Stickler syndrome have been found in the COL2A1 gene, and one mutation causing Stickler syndrome and one causing Marshall syndrome have been ...

BACKGROUND: Charles Bonnet's Syndrome (CBS), characterised by the presence of complex visual hallucinations in psychologically normal people, was considered for a long time to be rare. Systematic research on CBS has been limited. However, it has been realised that CBS occurs frequently in elderly, visually handicapped patients, and we have been able to study the syndrome in a large number of patients.

METHODS: After screening 505 visually handicapped patients, 60 were found to meet ...

Homocystinuria due to cystathionine beta-synthase (CBS) deficiency, inherited as an autosomal recessive trait, is the most prevalent inborn error of methionine metabolism. Its diverse clinical expression may include ectopia lentis, skeletal abnormalities, mental retardation, and premature arteriosclerosis and thrombosis. This variability is likely caused by considerable genetic heterogeneity. We investigated the molecular basis of CBS deficiency in 29 Dutch patients from 21 unrelated ...

OBJECTIVE: To assess the causes for delay in the diagnosis of homocystinuria.

DESIGN: Clinical and laboratory data were collected from patients diagnosed as having homocystinuria due to cystathionine synthase deficiency, with special reference to the ages at which the patients had their first major signs of the disease, ectopia lentis was established, and homocystinuria was diagnosed.

SETTING: University hospital in the Netherlands.

SUBJECTS: 34 patients (18 males) in whom homocystinuria ...

In 19 patients who had retinal vein occlusion or retinal artery occlusion before the age of 50 years, the incidence of hyperhomocysteinemia, as observed in heterozygosity for homocystinuria, was studied by the performance of a standardized, oral methionine-loading test. In four of the 19 patients (21%), two with retinal artery occlusion and two with central retinal vein occlusion, the after-load peak levels of homocysteine exceeded the mean level, established in normal control subjects, ...

BACKGROUND: The aims were to determine the prevalence of the Charles Bonnet syndrome (CBS) in low-vision patients and analyse possible associated ophthalmic and sociodemographic factors.

METHOD: A semi-structured interview on visual hallucinations was given to 300 adult low-vision patients and 200 elderly general ophthalmic patients. Positive cases were examined with the Geriatric Mental State Schedule and the Mini Mental State Examination. Diagnostic criteria were as follows: complex, ...

The Charles Bonnet syndrome (CBS) is characterized by the presence of complex visual hallucinations in psychologically normal people. The syndrome occurs predominantly in the visually handicapped elderly. Little is known about its etiology and pathogenesis. The aim of this study was to examine the associations of CBS with psychological and social determinants. All subjects were patients older than 64 years from a low-vision unit. Using a case-control approach, 50 patients with CBS and 80 ...

Listing's law of the eye is one of the best studied findings in motor control, but its functional meaning is still incompletely understood and its status in neurological disorders and in strabismus is almost entirely unknown. We investigated the mechanisms underlying Listing's law and its possible clinical relevance. The dual magnetic search coil technique was used to record three-dimensional binocular eye movements in a stereoblind strabismic patient with good visual acuity in both eyes ...

PURPOSE: Experimental and epidemiological studies suggest that low antioxidant intake may be associated with the occurrence of neovascular age-related macular degeneration (AMD).

METHODS: We investigated this hypothesis further with a case-control study involving 72 case and 66 control patients attending the Ophthalmology Department of the University Hospital in Nijmegen. Data were collected by interview on antioxidant intake (i.e. in fruit and vegetables), cigarette smoking, sunlight ...

Ectopia lentis has rarely been reported to occur in association with craniosynostosis, and this was found only in sporadic cases. We report on twin sisters who underwent surgery for craniosynostosis and later on, at age 3 years, were found to have bilateral ectopia lentis. Molecular studies yielded a probability of monozygosity of more than 0.98. Inheritance of the syndrome may be autosomal dominant, possibly due to a new mutation, autosomal recessive, or X-linked with male lethality.

Congenital grouped pigmentation of the retina is an uncommon disorder characterized by a grouping together of round to oval spots of pigment in one or more quadrants of the retina, except for the macula. Detection is usually coincidental during routine ocular examination. We examined a mother and daughter with bilateral grouped pigmentation of the retina. Visual acuity, visual fields, and results of electrophysiologic examination were normal. Autosomal dominant inheritance with variable ...

Abstract• Background: Intrascleral epithelial inclusion cysts have been described after ocular trauma, scleral buckling and strabismus surgery. They are usually small, asymptomatic and located anteriorly. • Case report: The clinical hisotry of a 9-year-old girl who developed a huge epi- and retrobulbar intrascleral cyst in both the upper and the lower nasal quadrants after multiple strabismus operations is described. • Results: Surgical resection of the cyst wall was twice unsuccessful. ...

AIMS/BACKGROUND: To describe a bilateral, mid peripheral, ring-shaped corneal opacity, not resembling any known corneal degeneration, dystrophy, or other disorder, and occurring without ocular or systemic disease.

METHODS: Ophthalmic examination, haematological screening, and ultrasound biomicroscopy.

RESULTS: A 25 year old man showed grey-white, granular opacities in both corneas, with an 8 mm diameter ring configuration, and a V-shaped distribution in the anterior stroma. The ...

We report on 3 siblings with an adult-onset, predominantly distal muscle weakness. In the female index patient this was associated with epilepsy and a progressive spastic ataxic gait, while the 2 other siblings had no appreciable clinical nervous system involvement. Additional investigations revealed muscular dystrophy and leukoencephalopathy in all 3 siblings. We conclude that this familial adult-onset muscular dystrophy associated with leukoencephalopathy represents a newly recognized ...