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Biomedical subjects

M B Mets

Publications and source records attributed to M B Mets.

45 records · Page 3Linked to original sources
PubMed1986

Anomalies of retinal architecture in Aicardi syndrome.

Eyes obtained at autopsy from a female infant with Aicardi syndrome (chorioretinal lacunae, agenesis of the corpus callosum, and seizures) were studied by light and electron microscopy. The retinal insertion was displaced anteriorly over the ciliary body, the choroid was attenuated, and the retinal pigment epithelium showed hyperplasia and pigment migration throughout the sensory retina. Rosettes of photoreceptorlike cells and inversion of the photoreceptor layer were found. A hole within a lacuna showed total absence of the sensory retina. Optic disc epipapillary tissue consisted of glial and fibrous elements with a vascular core. The mechanism of photoreceptor folding is considered. The continuity of the external limiting membrane with the retinal pigment epithelium at sites of photoreceptor folding seen in our case suggests defective early development.

Agenesis of Corpus Callosum↗
PubMed1985

Ocular deviation after retinal detachment surgery.

Thirty patients with untreated rhegmatogenous retinal detachments underwent complete ocular muscle examinations before scleral buckling procedures. The examination was repeated three weeks, six weeks, three months, and six months after surgery. We found a high incidence of heterotropia after surgery; in most cases this resolved during the first six postoperative months. This resolution progressed from heterotropia to heterophoria to orthophoria. We believe this change results from phoria adaptation. Diplopia occurred in three patients. We found no statistically significant association between this diplopia and the type of surgery used.

Adult↗
PubMed1985

Probable autosomal dominant optic atrophy with hearing loss.

The seventh family manifesting an entity described as automosal dominant optic atrophy with hearing loss is reported here. This disorder shows great inter- and intrafamilial variation in the onset time and the degree of loss of both vision and hearing. Unlike autosomal dominant optic atrophy without hearing loss, it appears to be associated with a red-green (deutan) defect in color vision.

Adult↗
PubMed1984

Fenestrated sheen macular dystrophy.

Fenestrated sheen macular dystrophy is an autosomal dominant macular disorder characterized by the presence in the central macular zone of a golden sheen with tiny red fenestrations. Even in the later stages, only a mild functional disturbance has been observed. There were five patients manifesting this dystrophy in two generations of a family. They represent the third family so described.

Adult↗
PubMedDate not supplied

The eye and the chromosome.

The first linkage of disease traits on the human X-chromosome was reported in 1937, and the first assignment of a human disease to an autosome was made 26 years later in 1963. Now, after only 19 years, there are at least 338 assignments to loci on the human chromosome map. This amazing expansion of information extends to eye diseases. In this review, basic mechanisms of mutation are discussed, and the basic methodologies used for gene assignments are explained. All of the eye-related, definite, autosomal assignments are presented. The diseases that have regional assignments on the X-chromosome are discussed, and the remaining X-linked eye diseases are listed in table form.

Child↗