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D Wittebol-Post

Publications and source records attributed to D Wittebol-Post.

36 records · Page 2Linked to original sources
PubMed1994

Von Hippel-Lindau disease: new strategies in early detection and treatment.

UNLABELLED: Von Hippel-Lindau disease is an autosomal dominant inherited disorder causing hemangioblastomas of the central nervous system (CNS), retinal hemangiomas, renal cell carcinomas, pheochromocytomas, pancreatic and liver cysts, and epididymal cystadenomas. PURPOSE: Since 1976, we have periodically screened for the lesions in a large affected family and were able to evaluate new strategies in detection and treatment. PATIENTS AND METHODS: A total of 23 individuals underwent the screening program. A multidisciplinary team of physicians was involved. RESULTS: In 13 patients (7 females and 6 males), a total of 31 tumors was detected; hemangioblastoma of the CNS (9), retinal angioma (4), renal involvement (8), pheochromocytoma (4), pancreatic lesions (4), and liver lesions (2) were diagnosed by periodic family screening. On the basis of more than 10 years of experience and current literature, new criteria for diagnosis and treatment have been proposed. CONCLUSION: The von Hippel-Lindau disease gene appears to be a tumor suppressor gene, and its absence or a defect in its structure is responsible for the predisposition to the disease. Tumor development depends on a somatic second mutation in the homologous allele. That means, in disease-gene carriers, tumor growth may begin at any age. Most of the lesions can be treated successfully when diagnosed in time. Periodic screening by a multidisciplinary team has to be continued lifelong.

Adult↗
PubMed1993

B-scan ultrasonography in Graves' orbitopathy.

Diagnosing and monitoring of Graves' Orbitopathy (GO) can be supported by use of Ultrasonography (USG) and Computerized Tomography (CT); they provide supplementary information. In this retrospective study we describe 107 clinical GO patients evaluated by B-scan USG and 27 clinical GO patients evaluated by CT scan. Analysis of 236 B-scan USG included measurements of medial, inferior and lateral rectus muscles. The presence of muscle enlargement and increased orbital fat were noted by the radiologist on 27 CT scans. Sensitivity of both B-scan USG and CT scan were calculated. We suggest that B-scan USG has a high sensitivity, which is equal or better than CT scan sensitivity in diagnosing GO. Furthermore USG A and B scan combination is an effective, accurate tool in diagnosing GO, and optic neuropathy, but it also provides essential information about the GO disease activity.

Female↗
PubMed1993

The Peters'-Plus syndrome: description of 16 patients and review of the literature.

Peters'-Plus syndrome is characterized by Peters' anomaly, a typical face, cleft lip and palate, short limb dwarfism, and developmental retardation. We report the follow-up of six patients in the original report, 10 yet unreported patients, and review 26 patients that have been reported in the literature. The spectrum of the syndrome is broadened by data from affected sibs which indicate that a wider range of anterior chamber cleavage disorders may be present, a cleft lip or palate need not be present, and developmental retardation may be mild or even absent. An increased foetal loss in families with Peters'-Plus syndrome may indicate intrauterine death of some foetuses affected by the syndrome. The pattern of inheritance is autosomal recessive.

Abnormalities, Multiple↗
PubMed1993

Blepharophimosis, ptosis, polythelia and brachydactyly (BPPB): a new autosomal dominant syndrome?

A father and two sons with blepharophimosis, ptosis, polythelia and brachydactyly are presented, apparently without other abnormalities. The features do not fit into any previously described syndrome. This condition may represent a hitherto undescribed syndrome, although resemblance with the blepharophimosis-ptosis-epicanthus inversus syndrome exists. Inheritance is probably autosomal dominant.

Adult↗
PubMed1992

The prevalence of cerebral visual disturbance in children with cerebral palsy.

Assessment of visual acuity using the visual acuity card procedure in 164 children with cerebral palsy revealed low visual acuity in 71 per cent. Results of ophthalmological examination were available for 74 of these patients, but could not explain adequately the low visual acuity of 36 of the 43 patients (84 per cent) assessed by both the acuity card procedure and other techniques. There is a high probability that cerebral visual disturbance is present in these patients. Awareness of visual disability when compiling a programme of visual and neurodevelopmental stimulation for children with cerebral palsy is essential.

Adolescent↗
PubMed1992

Confirmation of X-linked inheritance and provisional mapping of the keratosis follicularis spinulosa decalvans gene on Xp in a large Dutch family.

In a large Dutch family with keratosis follicularis spinulosa decalvans (KFSD, MIM 308800), DNA linkage analysis was performed in order to locate the gene. Pedigree analysis and lod score calculation confirmed X-linked inheritance and revealed significant linkage to DNA markers on Xp. A maximum lod score of 5.70 at theta = 0.0 was obtained with DXS41 (p99.6). The KFSD gene is tentatively located on Xp21.2-p22.2.

Chromosome Mapping↗
PubMed1992

Linkage analysis of keratosis follicularis spinulosa decalvans, and regional assignment to human chromosome Xp21.2-p22.2.

Keratosis follicularis spinulosa decalvans (KFSD) is a rare X-chromosomal disorder. It consists of follicular hyperkeratosis of the skin, scarring alopecia of the scalp, absence of the eyebrows, and corneal degeneration. There is photophobia in childhood, but the symptoms tend to diminish after puberty, and prognosis for vision is good. Some heterozygotes do show clinical symptoms. In a large Dutch pedigree we performed DNA analysis in order to localize the KFSD gene. In 54 individuals, including 21 affected males, RFLP analysis was done using DNA probes covering the X chromosome. Two-point linkage analyses with 19 informative DNA markers revealed significant linkage to DNA probes on Xp21.1-p22.3. The highest lod scores of 5.70 and 4.38 were obtained with DXS41 and DXS16 at a recombination fraction of zero and 4 cM, respectively. Multipoint linkage data place KFSD between DXS16 and DXS269. Our data confirm X linkage of KFSD in this family and tentatively map the gene on Xp22.2-p21.2. Combined with clinical investigation, RFLP analysis may become an important tool in carrier detection.

Chromosome Mapping↗
PubMed1989

The dystrophy described by Reis and Bücklers. Separate entity or variant of the granular dystrophy?

The dystrophy originally described by Reis and Bücklers shows electron-microscopically 'rod-shaped bodies' in the region of Bowman's membrane that cannot be distinguished from the 'rod-shaped bodies' in the granular dystrophy. Some authors conclude from this finding that the dystrophy is a superficial variant of the granular dystrophy. Our findings indeed point to the fact that the keratocytes are the primary source of the opacities as is the case in the granular dystrophy. From the clinical, biomicroscopic and light-microscopic differences, however, it seems likely that both dystrophies will in future be shown to be due to different biochemical defects or that they are at least allelic forms of the same biochemical defect.

Age Factors↗
PubMed1989

The corneal dystrophy of Waardenburg and Jonkers.

The dystrophy in 1961 described by Waardenburg and Jonkers in considered in the literature as a separate dystrophy by some authors and as an atypical form of granular dystrophy by others. That it is in fact the first description of, and synonymous with, the honeycomb dystrophy (Thiel and Behnke), in the English-language literature usually called Reis-Bücklers' dystrophy, was proven by reinvestigation of the family concerned.

Cornea↗
PubMed1987

Meesmann's epithelial dystrophy of the cornea. Biometrics and a hypothesis.

Corneal thickness in the affected members of 3 families with Meesmann's epithelial dystrophy was statistically significantly less than that of the nonaffected members and of their controls. From our data one could speculate that the stroma rather than the epithelium is the primary source of the dystrophy. The thinner the cornea, the more marked the expression of the epitheliopathy. The affected members of the 2 families that were large enough for a separate analysis showed a marked difference in expressivity of the epithelial disorder. In one family the epitheliopathy showed a stationary character, while in the other there was a progression in the density of the epithelial vesicles.

Cornea↗
PubMed1987

Granular dystrophy of the cornea (Groenouw's type I). Is the keratocyte the primary source after all?

Corneal buttons from 2 patients from unrelated families with granular dystrophy were examined by light and electron microscopy. An electron-dense substance was noted between the basal epithelial cells; polymorphic electron-dense deposits ('rod-shaped' bodies) could be demonstrated subepithelially, between the stromal lamellae and also within the cytoplasma of the keratocytes. Our findings give credence to the view of earlier authors that the keratocyte is the primary source of the abnormal material.

Aged↗
PubMed1986

[Reis-Bücklers corneal dystrophy].

In the literature two types of anterior corneal dystrophy are referred to as Reis-Bücklers' dystrophy. These are the one originally described by Bücklers in 1949 and known by us as the geographical form, and a honeycomb form. On the basis of electron-microscopic findings the geographical form is considered by some authors today to be a superficial variant of the granular dystrophy (Groenouw I), while the honeycomb form is looked upon as the "true" Reis-Bücklers' dystrophy. However, there is no clinical resemblance between the honeycomb type and the dystrophy described by Bücklers. Clinically it is easy to distinguish the geographical and the honeycomb type, and this is important for the prognosis of a corneal graft. The present authors do not agree that the term granular dystrophy should include the dystrophy described by Bücklers. There is a lack of clarity concerning this type of dystrophy, and clinically it bears no resemblance to granular dystrophy. In the authors' opinion it would be preferable to speak of the geographical and the honeycomb form of Reis-Bücklers' dystrophy.

Chromosome Aberrations↗
PubMed1979

Essential progressive iris atrophy. Report of two cases.

Chandler's syndrome and essential progressive iris atrophy, we believe, are two entities of the same syndrome. We have presented a case which could be considered a perfect intermediate. The mechanical 'stretch' theory of Campbell et al., supported to an extent by the light and electron microscopic findings of Rodrigues et al., is untenable in view of the observation in our patient that the first, and broad, peripheral anterior synechia was opposite the position of the displacement of the pupil. Every case in which corneal abnormality, glaucoma and iris changes are found, should be checked explicitly, with specular microscopy and gonioscopy, for corneal endothelial changes and in order to locate the area of predilection of peripheral anterior synechiae.

Adult↗
PubMedDate not supplied

Sutural cataract, retinitis pigmentosa, microcephaly and psychomotor retardation. A new autosomal recessive disorder?

We report four children (three sibs and one sporadic case) with congenital sutural cataract (opacity of the sutures of the crystalline lens), retinitis pigmentosa (leading to diminished visual acuity), microcephaly, and moderate to severe psychomotor retardation. The three sibs (two F and one M) were born to healthy, consanguineous Moroccan parents; the sporadic case is an 11-year-old Dutch girl who presented at the age of nine months with a small head circumference (third percentile) and sutural cataract. Psychomotor development was retarded in all cases, retinitis pigmentosa became evident during middle or late childhood. Congenital cataract has been described in association with a large number of various congenital abnormalities, such as renal, nervous system, skeletal, dermal and ocular (including retinal) defects. A computer-assisted literature search has not revealed similar cases to those presented here. The cases described here appear to have a previously undescribed combination of ophthalmological and cerebral abnormalities. The inheritance of the condition appears to be autosomal recessive as a brother and two sisters (offspring of normal consanguineous parents) are affected. The differential diagnosis is discussed.

Cataract↗
PubMedDate not supplied

Screening for retinopathy of prematurity: do former guidelines still apply?

Early detection of retinopathy of prematurity (ROP) in premature and very-low-birth-weight infants is crucial. In this retrospective study, 581 infants either with a birth weight below 1500 g or a gestational age of less than 32 weeks, or who did not fit these criteria but were judged to be at increased risk, were screened for ROP. ROP developed in 159 (27.4%). The incidence of ROP appeared to be inversely proportional to birth weight and gestational age. Infants with a birth weight below 750 g had a significantly higher risk of developing stage 3 and 4 ROP. The mean age at detection was 7.6 +/- 1.6 weeks. Nearly all of the ROP cases and all of the stage 3 and 4 cases were detected between the 5th and 10th week. Because screening should be focused on these vision-threatening stages, ophthalmic examinations should be concentrated in, but not limited to, the period between the 5th and the 10th postnatal week.

Birth Weight↗