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Biomedical subjects

I H Maumenee

Publications and source records attributed to I H Maumenee.

At least 109 records · Page 6Linked to original sources
PubMed1984

Linkage analysis in lattice corneal dystrophy.

Two kindreds of lattice corneal dystrophy (LCD) [McKusick, 1983, catalog No. 12220] were studied for linkage. Fifty-one relatives were examined clinically, and 27 affected and 24 normal persons were ascertained. Tight linkage could be excluded for 15 informative markers with LOD scores of less than -2.0. The largest positive LOD score was 0.56 at 0 = 0.17 for linkage between haptoglobin and LCD. Combined with a previous study, the combined LOD score is 0.96.

Corneal Dystrophies, Hereditary↗
PubMed1984

Peters' anomaly associated with partial deletion of the long arm of chromosome 11.

A 5-week-old boy with Peters' anomaly was found to have an interstitial deletion of the long arm of chromosome 11; no developmental delays or dysmorphic features were evident. His right cornea was enlarged and opaque with extensive pannus formation; the anterior chamber, iris, and lens were not visible. The left eye showed a central opacity and a superficial pannus; the optic disk and macula could not be visualized. He underwent bilateral corneal transplantation. Histologic examination of the corneal buttons confirmed the diagnosis. The potential genetic mechanisms in this case included a gene for this autosomal recessive disorder on the long arm of chromosome 11, generalized disruption of the embryogenesis of the anterior segment as a result of the deleted material, or simple autosomal recessive inheritance unrelated to the chromosomal deletion.

Chromosome Aberrations↗
PubMed1984

Colobomatous macrophthalmia with microcornea.

The ocular malformation of microcornea, uveal coloboma, high myopia, posterior staphyloma, and macrophthalmia was studied in a family. Clinical characteristics and ocular parameters, including refractive error and axial length, are summarized. The pedigree is consistent with autosomal dominant inheritance of the disorder; expressivity is variable. This unique malformation is differentiated from other well-recognized syndromes of colobomatous microphthalmia.

Adult↗
PubMed1983

Histopathology of Sanfilippo's syndrome.

A 19-year-old woman with Sanfilippo's syndrome had poor vision, a flat electroretinographic pattern, and fundus changes similar to those in retinitis pigmentosa. Histology of her eyes by phase-contrast and electron microscopy showed extensive intracellular accumulation of fibrillogranular and membranous lamellar vacuoles in cornea, trabecular meshwork, iris, lens, ciliary body, and sclera. Retinal ganglion cells, retinal pigment epithelium (RPE), and optic nerve glia were similarly involved. Retinal pigment epithelial hyperplasia and hypopigmentation, intraretinal RPE migration, vascular attenuation, and marked photoreceptor loss were notable and closely resembled that occurring in inherited retinitis pigmentosa. We assume that the patient's blindness was due to photoreceptor cell loss, since the ganglion cells and optic nerve seemed to be intact. Although the cause of photoreceptor loss is unclear, the massive storage of acid mucopolysaccharide and lipofuscin within the RPE might disturb its essential metabolic functions and lead to photoreceptor degeneration.

Adult↗
PubMed1983

Ocular histopathologic studies of neonatal and childhood adrenoleukodystrophy.

Histopathologic studies of the eyes of one patient (a boy who died at 14 years of age) with childhood adrenoleukodystrophy and two patients (girls who died at 24 and 31 months of age) with neonatal adrenoleukodystrophy showed the accumulation of the characteristic bileaflet inclusions in optic nerve macrophages, retinal neurons, and macrophages and loss of ganglion cell and nerve fiber layer. Additionally, in the two cases of neonatal adrenoleukodystrophy, changes resembling early retinitis pigmentosa were found, with accumulation of characteristic inclusions in the retinal pigment epithelium and pigment-laden macrophages. One of the patients with neonatal adrenoleukodystrophy also had an anterior subcapsular cataract and cystoid macular edema.

Adrenoleukodystrophy↗
PubMed1983

Linkage analysis in dominant optic atrophy.

A kindred of German descent was studied for dominant optic atrophy, type Kjer (McKusick catalog no. 16540). One hundred twenty-three family members were examined clinically, and 36 affected, 81 normal, and six uncertain members were ascertained. Twenty-seven markers were analyzed for 121 members. The maximum lod score obtained was 2.0 at theta = .18 for linkage between the Kidd locus and dominant optic atrophy. Twenty-eight offspring were informative with 2-generation data. There was insufficient information for the acid phosphatase locus to aid gene localization. These data suggest that the locus for dominant optic atrophy is on chromosome 2.

Chromosome Mapping↗
PubMed1982

Bardet-Biedl syndrome and related disorders.

The Bardet-Beidl and Laurence-Moon syndromes are distinct entities. The nosology of five syndromes combining ocular and/or auditory defects, mental retardation, genital hypoplasia, obesity, and digital anomalies is reviewed. A 32-month-old boy had an unusual condition that may represent a sixth entity.

Cataract↗
PubMed1982

Vitreoretinal degeneration in spondyloepiphyseal dysplasia congenita.

Eighteen patients had ocular changes associated with spondyloepiphyseal dysplasia congenita, a rare cause of congenital dwarfism with normal mental development. Seven patients had nonprogressive myopia of 5.00 or more diopters. Vitreoretinal degeneration was encountered in six patients with high myopia, and vitreous syneresis was present in all patients. Corrected visual acuity was 20/50 or better in all patients. Retinal detachment was not encountered, although reports in the nonophthalmic literature claim up to 50% retinal detachment rate and poor visual prognosis in these patients.

Adolescent↗
PubMed1981

Prevalence of map-dot-fingerprint changes in the cornea.

Map-dot-fingerprint basement-membrane abnormalities of the cornea are common in the general population, affecting as many as 76% of persons over age 50 and 42% of persons of all ages. The prevalence of this condition in the general population is not significantly different from that found in families of patients with recurrent corneal erosions and map-dot-fingerprint corneal changes. Despite this extremely high prevalence of basement-membrane changes the incidence of recurrent erosive symptoms in total groups of patients with basement-membrane changes is quite rare, suggesting that these 2 entities are possibly not related. Although previous observers have suggested an autosomal dominant mode of inheritance of these basement-membrane changes, our data raise the possibility that map-dot-fingerprint basement-membrane changes represent an age-dependent, degenerative condition of the cornea. We were unable, however, to prove either hypothesis.

Adolescent↗
PubMed1981

The eye in the Marfan syndrome.

One hundred sixty consecutive patients with the Marfan syndrome were reviewed for ocular, cardiovascular, and skeletal abnormalities, and were graded by severity. The most striking ocular abnormality was enlargement of the globe, presumably caused by scleral stretching. Staphylomata were not a feature of any of the patients seen, nor was keratoconus. The cornea, in fact, was flattened but not thinned. Among the 160 patients, 193 eyes showed dislocation of the lens. Dislocation of the lens was positively correlated with increased ocular axial length and with decreasing KJ readings. We postulate that the ocular pathologic changes are primarily caused by stretching of the tunica scleralis, and that the zonular fibers (thus under stress may "give" or may rupture in their area of presumably least density which may be the area of developmental fusion of the optic vesicle. In a small proportion of cases the lens dislocation was progressive. There was no correlation between ocular findings, on one hand, and the skeletal and cardiovascular abnormalities on the other. However, there was a good degree of intrafamilial consistency with regard to absence or presence of ocular pathology. The absence of correlation between the ocular and systemic findings in our data on these 160 patients is best explained by the existence of more than 1 point mutation, which may give rise to different but clinically similar phenotypes. The results of our calculations of mutation rate were compatible with such an explanation.

Adolescent↗
PubMed1980

Hereditary Fuchs' Dystrophy.

We studied 102 individuals from 25 families in which at least one member was known to have Fuchs' endothelial dystrophy. We used slit-lamp examination, corneal pachymetry, and specular microscopy. We also examined pathology records which contained 79 cases of penetrating keratoplasties done solely for phakic Fuchs' dystrophy between 1940 and 1978. Although there was a marked predominance of females in our review of pathology records, our clinical study provided a more even sex distribution. There was a close correlation between the number of expected and observed affected first-degree relatives based on an autosomal-dominant mode of inheritance. We observed a fairly typical corneal pattern, beginning as a circumscribed area of central or paracentral cornea guttata, and thereafter expanding more horizontally than vertically with progression of severity. Fuchs' dystrophy appears to be a true corneal dystrophy with autosomal-dominant inheritance, a high degree of penetrance, and variable expressivity, with generally increased severity among females.

Adolescent↗
PubMed1980

Heterogeneity of retinal degeneration and hearing impairment syndromes.

Retinal abnormalities associated with hearing loss may be inherited alone or with additional manifestations. Environmental insults, such as rubella embryopathy, may also cause these abnormalities. We studied 13 patients with retinal abnormalities and hearing loss. Five had Usher's syndrome (retinitis pigmentosa and hearing impairment), one had crystalline retinopathy, two had associated enamel dysplasias, two had clumped pigmentary retinopathy, and three had Amalric-Diallinas syndrome. Our findings suggest considerable heterogeneity of syndromes involving retinal abnormalities and hearing loss.

Adolescent↗