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Biomedical subjects

H U Møller

Publications and source records attributed to H U Møller.

13 recordsLinked to original sources
PubMed1990

Granular corneal dystrophy Groenouw type I. A report of a probable homozygous patient.

A case of severe granular corneal dystrophy is described. The patient, who is most probably homozygous for the dominantly inherited dystrophy gene, is the product of a first cousin marriage with both parents mildly affected by the same dystrophy. The case report describes an early onset and a severe course with two grafts in each eye before the age of 17. Pictures of the clinical appearance, histology and transmission electronmicroscopy are shown.

Corneal Dystrophies, Hereditary↗
PubMed1990

Granular corneal dystrophy Groenouw type I. Clinical aspects and treatment.

The paper describes the comparatively benign nature of granular corneal dystrophy Groenouw type I and the results of treatment of the disease. 71 patients with a classic clinical appearance comprised the largest pedigree in medical literature. The disorder was confined to the eyes only. Visual acuity was close to normal in children; the children had small, superficial, corneal opacities, often arranged in lines, and for the most part with a smooth exterior surface when examined with Javal keratometry. In adult patients visual acuity was around 0.5, the exterior surface uneven, the corneal opacities larger, and distributed superficially as well as deeper in the corneal stroma. In elderly patients visual acuity was between 0.5 and 0.1 and they all had additional cataract. Fourteen patients were treated with corneal grafting during the past 15 years and all grafts remained clear.

Adolescent↗
PubMed1990

Granular corneal dystrophy Groenouw type I. 115 Danish patients. An epidemiological and genetic population study.

An epidemiological and genetic study in Denmark of granular corneal dystrophy Groenouw type I is described. Ninety-one living patients were found. The disease is inherited as an autosomal dominant trait with a 100% penetrance of the gene. The 91 cases could be traced back to 6 different mutations. The mutation rate was estimated to be about 0.3/1,000,000; the possible sources of error of this estimate are discussed. The age distribution of the patients is shown to be similar to that of the Danish population in general.

Adolescent↗
PubMed1989

Inter-familial variability and intra-familial similarities of granular corneal dystrophy Groenouw type I with respect to biomicroscopical appearance and symptomatology.

140 patients from 8 countries with granular corneal dystrophy Groenouw type I are described, and 21 slit-lamp photographs demonstrate inter-familial differences and intra-familial similarities. The clinical appearance varied from mild, with only a few granules on the cornea, to a monstrous course with an almost opaque cornea. The following diagnostic criteria are suggested for the disease, as these signs are described in extensively quoted key references and meet the descriptions in most papers on this subject: Dominant inheritance, as well as 1) typical slit-lamp appearance and/or 2) granules that stain with Masson trichrome histologically, and/or 3) rod-shaped bodies seen electron microscopically.

Adolescent↗
PubMed1989

Granular corneal dystrophy Groenouw type I (GrI) and Reis-Bücklers' corneal dystrophy (R-B). One entity?

This paper maintains that Reis-Bücklers' corneal dystrophy and granular corneal dystrophy Groenouw type I are one and the same disease. Included are some of the technically best photographs of Reis-Bücklers' dystrophy found in the literature, and these are compared with photographs from patients with granular corneal dystrophy examined by the author. It is argued that most of the histological and ultrastructural findings on Reis Bücklers' dystrophy described in the literature are either congruent with what is found in granular corneal dystrophy or unspecific.

Corneal Dystrophies, Hereditary↗
PubMed1989

Linkage relations of the locus for granular corneal dystrophy Groenouw type I with 35 polymorphic systems.

The paper presents preliminary results of linkage relations of the locus for granular corneal dystrophy Groenouw type I employing 35 classic genetic markers. Blood and saliva from 124 members of one family with this disorder were examined with the aim of localizing the disease to a certain chromosome. The highest lodscore was 1.04 in females at theta 0.00 to the system C1R, thus supplying a clue for continued gene-mapping investigations on the short arm of chromosome No. 12.

Adolescent↗
PubMed1989

Dystrophy: a revised definition.

Dystrophy is defined as the process and consequences of hereditary progressive affections of specific cells in one or more tissues that initially show a normal function. The term abiotrophy was previously applied to these lesions, but has gone out of use. Degeneration is an equivocal term used for both acquired and hereditary disorders. Aging may or may not be considered as dystrophy. Dysplasias or dyshistogeneses are different from dystrophies. Dyshistogenetic tissues present with abnormal structure and function at birth in contrast to dystrophies, which are genetically programmed for later onset.

Aging↗
PubMed1985

Early treatment of granular dystrophy (Groenouw type I).

Eight patients with dystrophia corneae (Groenouw type I) were studied. Fifteen eyes in 8 patients were treated with epithelial abrasion, and 5 eyes in 3 patients obtained improvement of visual acuity. In the remaining 10 eyes, the elements were localized so deep in the stroma that they were not altered by the abrasion. Five patients had been treated by corneal grafting. Evident recurrence along the suture lines was observed in 3 eyes and suspected in 2 eyes. It may be concluded that Groenouw type I changes are affected by epithelial abrasion. Early stages obtain visual improvement. Repeated therapeutic epithelial abrasions would seem to be a treatment possibility for patients with incipient changes.

Adolescent↗