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C E van Nouhuys

Publications and source records attributed to C E van Nouhuys.

11 recordsLinked to original sources
PubMed1994

Mapping of the autosomal dominant exudative vitreoretinopathy locus (EVR1) by multipoint linkage analysis in four families.

Autosomal dominant exudative vitreoretinopathy is a disorder affecting primarily the development of the human retinal vascular system. The disease locus has recently been assigned to 11q13-q23 by linkage studies in two families. Two-point analysis on a total of four families has now revealed close linkage (Zmax = 8.34 at theta = 0.00) between the disease locus and D11S873. Multipoint linkage analysis mapped the disease locus between D11S527/D11S533 and D11S35 with a maximum lod score of over 11 directly at D11S873. No evidence appeared for genetic/linkage heterogeneity among the four families examined.

Chromosome Mapping↗
PubMed1992

The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533.

Autosomal dominant familial exudative vitreoretinopathy (adFEVR) is a hereditary disorder characterized by the incomplete vascularization of the peripheral retina. The primary biochemical defect in adFEVR is unknown. The adFEVR locus has tentatively been assigned to 11q by linkage studies. We report the results of an extended multipoint linkage analysis of two families with adFEVR by using five markers (INT2, D11S533, D11S527, D11S35, and CD3D) from 11q13-q23. Pairwise linkage data obtained in the two families were rather similar and hence have not provided evidence for genetic heterogeneity. The highest complied two-point lod score (3.67, at a recombination fraction of .07) was obtained for the disease locus versus D11S533. Multipoint analyses showed that the adFEVR locus maps most likely, with a maximum location score of over 20, between D11S533/D11S527 and D11S35, at recombination rates of .147 and .104, respectively. Close linkage without recombination (maximum lod score 11.26) has been found between D11S533 and D11S527.

Chromosome Mapping↗
PubMed1991

Signs, complications, and platelet aggregation in familial exudative vitreoretinopathy.

Between 1979 and 1989, I examined 106 patients (16 pedigrees) with signs of familial exudative vitreoretinopathy. Of these patients, 101 had familial exudative vitreoretinopathy, and five had a sporadic manifestation. The complications of familial exudative vitreoretinopathy, deformation of the posterior retina, vitreous hemorrhage, amblyopia, and retinal detachment, caused diminished visual acuity. Of 170 eyes, retinal neovascularization was observed in 18 eyes (11%), and retinal exudates were observed in 16 eyes (9%). Several forms of retinal detachment occurred in 37 of 180 eyes (21%), which often took an unfavorable course. A falciform retinal fold was observed in 14 eyes (8%). Retinal surgery was performed in 14 eyes; reattachment of the retina was successful in only seven eyes. Platelet aggregation studies disclosed no significant differences between seven patients with familial exudative vitreoretinopathy and ten control subjects. The pathogenesis of the disease is based on a premature arrest of the vascular development of the retina.

Adolescent↗
PubMed1989

Juvenile retinal detachment as a complication of familial exudative vitreoretinopathy.

Retinal detachment occurred in 36 (20%) of 180 eyes of 90 individuals with familial exudative vitreoretinopathy (FEVR) from 17 families. FEVR can give rise to very different types of retinal detachment, such as rhegmatogenous retinal detachment, falciform retinal folds, PVR with formation of a retrolental membrane and exudative retinal detachment. All but one retinal detachment occurred before the age of 30. Traction from vitreous membranes seems to be the most important cause of retinal detachment; atrophy of the peripheral retina may contribute to the formation of retinal breaks. Subretinal exudation is a rare cause of FEVR retinal detachment.

Eye Diseases↗
PubMed1985

Dominant exudative vitreoretinopathy.

Eleven Dutch families with dominant exudative vitreoretinopathy (DEVR) were studied. The findings in 81 affected members of these families are listed. DEVR is probably based on a late developmental disorder of the foetal retinal vascular system. This disease has changed our concepts of the pathogenesis of congenital retinal folds. We could not confirm the presence of platelet aggregation defects in DEVR.

Eye Diseases↗
PubMed1981

Congenital retinal fold as a sign of dominant exudative vitreoretinopathy.

Four eyes of three patients from two large families with dominant exudative vitreoretinopathy showed an elevated retinal fold extending from the posterior pole toward the inferotemporal periphery of the fundus. A congenital retinal fold (ablatio falciformis congenita) has to be considered as a sign rather than a diagnosis, and can be caused by a few underlying disorders, to which dominant exudative vitreoretinopathy can be added. There are no indications that the hyaloid system is involved in the pathogenesis of a retinal fold in the latter condition. The formation of a retinal fold in dominant exudative vitreoretinopathy is the consequence of a developmental disorder of retinal vasculature during the last few months of intrauterine life, and may even occur after birth. The clinical picture and familial occurrence of many cases of congenital retinal fold described in the literature are suggestive of dominant exudative vitreoretinopathy, which only recently has been recognized as being a rather common condition.

Adolescent↗
PubMed1980

Congenital bilateral arterial anastomosis between the choroid and peripheral retina.

A healthy 26-year-old woman, had a decrease of vision in her left eye caused by a macular pucker, showed deformed retinal vessels, small exudative detachments of the neuroretina, and retinal exudates and hemorrhages in both fundi peripheral to the equator at the 6-o'clock position. Fluorescein angiography and stereoscopic photographs clearly showed an anastomosis of a recurrent ciliary artery with periphral retinal vessels and localized absence of the choriocapillaris under the detached retina in both eyes. The anastomosis probably developed in the last month of fetal life as the result of a localized absence of Bruch's membrane caused by an incomplete coloboma of the choroid that originated during the second month of gestation.

Adult↗
PubMedDate not supplied

The lacrimal surgery of Petrus Camper and his contemporaries.

Lacrimal surgery went through a period of rapid development in the 18th century. This is all the more remarkable because at that time anaesthesia was still unknown. In his ophthalmological textbook "De Oculorum Fabrica et Morbis", written in 1766, the renowned Dutch anatomist and surgeon Petrus Camper (1722-1789) presented a detailed review of the various operative procedures performed by himself and his contemporaries.

History, 18th Century↗