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Biomedical subjects

H U Møller

Publications and source records attributed to H U Møller.

At least 19 recordsLinked to original sources
PubMed1996

Recurrent ophthalmoplegia in childhood: diagnostic and etiologic considerations.

We present two patients with recurrent painful ophthalmoplegia starting in early childhood. Clinically, both patients fulfilled the criteria for ophthalmoplegic migraine. In one case, magnetic resonance investigations were performed following the second attack, between the third and fourth and during the fourth attack. The left third cranial nerve was significantly thickened in its course from the brainstem through the prepontine cistern to the cavernous sinus during the attacks and moderately thickened between the attacks. In the second case, magnetic resonance imaging was performed during the 14th attack, when the oculomotor nerve dysfunction was almost permanent, and the imaging demonstrated a swollen oculomotor nerve. Whether these findings are pathognomonic of ophthalmoplegic migraine awaits further reports using magnetic resonance imaging in infants showing recurrent painful ophthalmoplegia of early onset.

Child↗
PubMed1994

Assignment of granular corneal dystrophy Groenouw type I (CDGG1) to chromosome 5q.

Granular corneal dystrophy Groenouw type I (CDGG1) is an autosomal dominant disease with complete penetrance. 124 blood samples were collected from a single Danish pedigree of seven generations. Linkage was discovered with markers on chromosome 5q, with IL9 (Z = 15.96; theta M = 0.027, theta F = 0.00) and D5S436 (Z = 11.75; theta M = 0.00, theta F = 0.081) flanking the disease locus most closely. The marker IL9 is located in the region 5q22-q32. By multilocus linkage analysis the most likely position of CDGG1 among 9 markers was: D5S396-IL9-CDGG1-D5S436-D5S210/D5S207++ +-D5S434-D5S119-D5S211 and CDGG1-D5S402-D5S434. In each of two independent small pedigrees, in which a milder form of CDGG1 occurs, the disease gene was also linked to IL9 (Z = 3.02 at theta = 0.0 in males and females); i.e. the severe and the milder forms may be allelic.

Child↗
PubMed1993

Immunoglobulins in granular corneal dystrophy Groenouw type I.

Three patients with granular corneal dystrophy Groenouw type I underwent corneal grafting, and cryostat sections of the corneal buttons were examined immunohistochemically for immunoglobulins. Positive results were obtained for IgG, Kappa-, and Lambda chains with immunofluorescence technique. The reactions were seen exclusively in the same localizations as the Masson trichrome positive deposits.

Adult↗
PubMed1993

Differential diagnosis between granular corneal dystrophy Groenouw type I and paraproteinemic crystalline keratopathy.

A case of corneal opacities in a leukemic patient with an M-component in the serum proteins is presented, and a comparison is made to patients with granular corneal dystrophy Groenouw type I. The corneal deposits associated with the two conditions may appear identical with slit-lamp biomicroscopy. Granular dystrophy patients, however, show a normal serum immunoglobulin pattern in contrast to patients with paraproteinemic crystalline keratopathy. The two entities can therefore be distinguished from each other by a serum electrophoresis.

Cornea↗
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↗
PubMed1988

Pathology and pathomechanisms of epithelial microcystic and basement membrane abnormalities of the cornea.

Four patients with 'microcystic epithelial abnormality' were studied. Photographs demonstrated biomicroscopically visible alterations taking place over months. The histopathology comprising intraepithelial basement membrane abnormalities and intraepithelial cysts is described at the light and electron microscopical level. The biomicroscopically grey-white microcysts correspond in size to the basement membrane abnormalities. The histopathologically described cysts are much smaller. The pathogenetic mechanisms are discussed and it is suggested that breaks in the normal basement membrane are a more likely initial event than a speculative 'primary cellular dystrophy or degeneration'. Cells grow beneath the basement membrane and lift it up into the epithelium. A subsequent intraepithelial synthesis of basement membrane material may account for part of the ultrastructural appearance. The epithelial cysts were found exclusively beneath the basement membrane. They are thought to reflect the cellular maturation which is altered by the inserted membrane. It is suggested that the cysts pass through stages of maturation, which account for the observed difference in appearance.

Adult↗