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Biomedical subjects

I H Maumenee

Publications and source records attributed to I H Maumenee.

At least 127 records · Page 7Linked to original sources
PubMed1980

A patterned macular dystrophy with yellow plaques and atrophic changes.

Three middle-aged male patients are described with a peculiar patterned dystrophy of the macula. The basic lesions are discrete yellow plaques typically confined to the macular area and radiating from the fovea. They appear to be located at the level of the retinal pigment epithelium (RPE). With the passage of time some of the yellow plaques altered in extent and configuration, and atrophic changes appeared or extended. Visual acuity and electrophysiological tests are either normal or only moderately affected. The lesions appear to be distinct from the patterned dystrophies of the retina already described and from other conditions characterised by yellow or white deposits at the level of the RPE.

Adult↗
PubMed1979

Mucolipidosis IV. Histopathology of conjunctiva, cornea, and skin.

The condition of a 4-year-old white girl of Ashkenazi Jewish parents was diagnosed as mucolipidosis IV on the basis of marked corneal clouding and severe psychomotor retardation, in the absence of facial-skeletal dysplasia or abnormal mucopolysacchariduria. The results of histochemical and ultrastructural studies of conjunctiva, skin, and corneal epithelium confirmed the combined storage of acid mucopolysaccharide and complex lipid substances. An unusual histopathologic feature of mucolipidosis IV is the predisposition of extreme storage involvement of corneal epithelial cells with relative sparing of the keratocytes, which is a finding of potential therapeutic implication. In addition, application of electron microscopic study of cultured amniotic cells and conjunctival biopsy specimens to assess for the parents the mother's subsequent pregnancy additional emphasizes the value of ultrastructural studies in the diagnosis of lysosomal storage disease.

Amniotic Fluid↗
PubMed1979

An analysis of visual acuity, visual fields, and disk cupping in childhood glaucoma.

We analyzed the long-term functional results in 102 eyes of 59 patients with childhood glaucoma with specific reference to the pattern of optic nerve damage. Optic disk photography and quantitative perimetry were used to judge the degree of damage that had been sustained. There was a predilection for initial visual field damage in the arcuate area, followed by further arcuate and nasal field loss, similar to the pattern of visual field loss seen in adult glaucoma. In children, as in adults, neural tissue appeared to be lost preferentially at the vertical disk poles. The selective pattern of glaucomatous optic nerve damage seemed not to depend upon the age of the optic nerve structures. In contrast to adult eyes, the scleral canal in children apparently enlarges with high IOP. Thus, disk cup size increase in children could occur from neural tissue loss, from scleral canal enlargement, or from a combination of the two processes.

Adolescent↗
PubMed1979

Vitreoretinal degeneration as a sign of generalized connective tissue diseases.

Dominant vitreoretinal degeneration was first described by Wagner as a benign ocular condition. This term has since become widely associated with a familial retinal degenerative process accompanied by retinal detachments, even though nobody in the family described by Wagner suffered from a retinal detachment. Vitreoretinal degeneration, often progressing to detachments, occurs also in several distinct bone dysplasias. I have provided a classification of syndromes with vitreoretinal degeneration and its signficance as a sign of connective tissue diseases (probably involving type II collagen). In this sense, it is similar to ectopia lentis as a sign of various connective tissue diseases.

Abnormalities, Multiple↗
PubMed1979

Classification of hereditary cataracts in children by linkage analysis.

A total of 12-different types of hereditary cataracts have been positively assigned to the gene map. They are located on autosomes as well as on the X chromosome. This establishes several kinds of cataracts as distinct diseases caused by different mutations. In selected cases the information may be helpful for prenatal diagnosis.

Adolescent↗
PubMed1979

Bilateral symmetry of vision disorders in typical retinitis pigmentosa.

Bilateral symmetry of disorders of vision is examined in 60 typical patients with retinitis pigmentosa. We observed a very high degree of interocular congruence in the patterns of both kinetic visual field defects and threshold profiles and in abnormalities of foveal colour discrimination and visual acuity. Abnormalities of foveal colour vision are highly correlated with the extent of visual field loss.

Adolescent↗
PubMed1978

Clinical differentiation of recessive congenital hereditary endothelial dystrophy and dominant hereditary endothelial dystrophy.

Our review of previously published reports and familial cases revealed that corneal clouding in autosomal recessive congenital hereditary endothelial dystrophy was present at birth or within the neonatal period. Further, corneal changes with time were minimal, nystagmus was often present, and there were no other signs or symptoms. Patients with autosomal dominant endothelial dystrophy usually had clear corneas early in life; corneal opacification was slowly progressive, nystagmus was infrequent, and photophobia, as well as epiphora, may have been the first indications of the dystrophy. As there is usually little or no congenital evidence of the dominant type, "infantile" or "autosomal dominant" hereditary endothelial dystrophy would be more appropriate names for the dominant variant.

Chromosome Aberrations↗
PubMed1978

The cornea in connective tissue diseases.

Even though lenticular and retinal abnormalities seem to dominate the ophthalmologic picture in Marfan's syndrome, the cornea shows significant abnormalities consisting of a striking flattening and corneal astigmatism. The use of conjunctival biopsies followed by histochemical and electron-microscopic evaluation shows low morbidity but an excellent yield of diagnostic information on storage diseases, and an ectopic collagen may be the basis of at least one type of keratoconus. Much more work has to be done on defining the collagens of the human eye in embryologic, fetal, and postnatal stages under normal and pathologic conditions. The yield of such studies may be high for an understanding of such diseases as myopia, retinal detachment, and keratoconus.

Adolescent↗
PubMed1977

Familial aniridia with preserved ocular function.

Of 76 members of a large pedigree with familial aniridia, 61% of the 38 affected patients had visual acuity of 6/9 (20/30) or better and only 5% had acuity of 6/60 (20/200) or worse. Cataracts were present in 18% of affected patients; glaucoma in 13%; and strabismus in 34%. Sixteen percent of affected patients had strabismic amblyopia. No patient had nystagmus or corneal pannus. The good visual acuity in this family, as compared to that in others, indicates that the absence of iris tissue alone cannot account for the severe visual problems usually associated with aniridia.

Adolescent↗
PubMed1977

Large orbital conjunctival cyst after enucleation.

A 33-year-old man, 28 years after enucleation for a perforating injury, had a four-year history of slowly progressive proptosis of his prosthesis. Examination revealed a spherical mass filling the space normally occupied by the globe. A cyst lined by conjunctival epithelium was encountered on surgical exploration.

Adult↗
PubMed1977

A cutaneous marker in the Hunter syndrome a report of four cases.

A report of four patients and review of the literature suggest that a cutaneous marker exists for the Hunter syndrome. All previously described patients with this eruption have been males with clear corneas. The distinctive lesions consist of firm ivory-white papules and nodules that may coalesce to form ridges or a reticular pattern. The papules are usually seen in symmetrical areas between the angles of the scapulas and posterior axillary lines, the pectoral regions, the nape of the neck and/or on the lateral aspects of the upper arms and thighs. These lesions are seen in both allelic forms and cannot be used to separate a benign from a rapid course.

Arm↗