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I H Maumenee

Publications and source records attributed to I H Maumenee.

16 recordsLinked to original sources
PubMed1992

Ocular findings in Cockayne syndrome.

The ocular findings in eight patients with Cockayne syndrome included enophthalmos, hyperopia, poor pupillary dilation, and retinal dystrophy in all patients. Four patients had strabismus. Two patients had cataracts. Three patients had nystagmus. Visual acuity was relatively well preserved in six patients, including a 25-year-old man with a visual acuity of 20/60 in each eye despite advanced retinal pigmentary changes. Failure of DNA and RNA synthesis to recover after ultraviolet light exposure as well as selective loss of repair of transcriptionally active DNA may account for the ocular abnormality in this progeric syndrome.

Adult↗
PubMed1992

Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy.

Leber hereditary optic neuropathy (LHON) is a maternally inherited disorder characterized by bilateral acute or subacute loss of central vision, primarily in young males. A G----A single base mutation at 11778nt of the mitochondrial genome which eliminates a SfaNI restriction site [Wallace et al., 1988; Holt et al., 1989; Hotta et al., 1989; Singh et al., 1989; Vilkki et al., 1989; Yoneda et al., 1989; Stone et al., 1990; Lott et al., 1990.] has been found in more than 60% of the families with LHON studied. We studied 25 persons from 4 families with LHON using SfaNI and Mae III digestion of a 201 base pair polymerase chain reaction (PCR) product encompassing the 11778nt mutation. The loss of the SfaNI site and the acquisition of a Mae III site at 11778nt were identified in all maternal relatives of the LHON families studied. The mutation was heteroplasmic in all affected individuals, female carriers, and males at-risk. The heteroplasmy of mitochondrial DNA (mtDNA) was also identified by direct DNA sequencing of PCR amplified by direct DNA sequencing of PCR amplified mtDNA digested by SfaNI or Mae III. It appears that the proportion of the mutant mtDNA correlates with the severity of the disease.

Adenine↗
PubMed1992

Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes.

Norrie disease is a rare X-linked recessive disorder characterized by blindness from infancy. The gene for Norrie disease has been localized to Xp11.3. More recently, the genes for monoamine oxidase (MAOA, MAOB) have been mapped to the same region. This study evaluates the clinical, biochemical, and neuropsychiatric data in an affected male and 2 obligate heterozygote females from a single family with a submicroscopic deletion involving Norrie disease and MAO genes. The propositus was a profoundly retarded, blind male; he also had neurologic abnormalities including myoclonus and stereotopy-habit disorder. Both obligate carrier females had a normal IQ. The propositus' mother met diagnostic criteria for "chronic hypomania and schizotypal features." The propositus' MAO activity was undetectable and the female heterozygotes had reduced levels comparable to patients receiving MAO inhibiting antidepressants. MAO substrate and metabolite abnormalities were found in the propositus' plasma and CSF. This study indicates that subtle biochemical and possibly neuropsychiatric abnormalities may be detected in some heterozygotes with the microdeletion in Xp11.3 due to loss of the gene product for the MAO genes; this deletion can also explain some of the complex phenotype of this contiguous gene syndrome in the propositus.

Adolescent↗
PubMed1992

Peters' anomaly and associated congenital malformations.

We reviewed the clinical findings in 29 patients with Peters' anomaly. There was developmental delay in 15 patients, congenital heart disease in eight patients, external ear abnormalities in five patients, structural defects of the central nervous system in four patients, genitourinary malformations in four patients, cleft lip/palate in three patients, hearing loss in three patients, spinal defects in two patients, and single cases of other less common defects. One patient had fetal alcohol syndrome; one, Pfeiffer's syndrome; and one, short stature, ulnar hypoplasia, and joint laxity. Colobomatous microphthalmia was present in seven patients, and persistent hyperplastic primary vitreous in three patients. Ten patients developed glaucoma, and three had retinal detachment unrelated to ocular surgery. Peters' anomaly may be due to a developmental field defect, or the complex ocular and systemic malformations may be the result of a contiguous gene syndrome or of a defective homeotic gene controlling the development of the eye and other body structures.

Abnormalities, Multiple↗
PubMed1992

Molecular genetic analysis in autosomal dominant keratoconus.

Members in three generations of a family whose propositus had keratoconus were examined by biomicroscopy, with a corneoscope and a computer-assisted videophoto-keratoscope. Keratoconus was detected in eight of 15 family members with vertical transmission consistent with autosomal dominant inheritance. Affected individuals displayed variable topographic features. Abortive "nipple-type" cones were identified in some individuals in successive generations using the computer-assisted videophotokeratoscope and more advanced nipple-type cones detected on biomicroscopy of other family members. We selected a COL6A1 cDNA (the gene encoding the alpha 1 chain of type VI collagen) as a "candidate gene" to determine cosegregation with the disease locus. Linkage analysis excluded a gene locus for keratoconus on the most telomeric region of chromosome 21 in this family.

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↗