ABSTRACT
The inheritance and some developmental effects of a new allele of ocular retardation (orJ) are described. Affected animals or 12 days of gestation, show reduced cell death in the eye cup and thickening of the inner wall of the optic fissure. At 11 to 13 dyas of gestation orJ/orJ eyes grafted to the testis do not produce retina as their orJ+ littermates do. Adult animals have small eyes with closed lids, abnormal retinal layers, and no optic nerve.
Subject(s)
Eye Abnormalities , Alleles , Animals , Mice , Mice, Inbred Strains , Microscopy, Electron , Optic Nerve/abnormalities , Retina/abnormalities , Retina/pathologyABSTRACT
The distribution of applanation intraocular pressure was studied in a normal population over a period of 7 years. The distribution shows a bimodal curve with peaks at 13 and 17 mm. The assumption is made of two populations whose pressures are symmetrically distributed. Some genetic and clinical aspects of these findings are discussed.
Subject(s)
Intraocular Pressure , Adolescent , Adult , Age Factors , Aged , Child , Female , Glaucoma/diagnosis , Humans , Male , Middle Aged , Reference Values , Sex FactorsABSTRACT
The left eye of a 71-year-old patient who had suffered from choroiditis guttata was removed immediately after death by enucleation. Histopathological studies revealed numerous nodular (hard) drusen, a wide variety of senile alterations of the pigment epithelium and Bruch's membrane, and the presence of multiple corpora arenacea in the subarachnoid space of the optic nerve. A new hypothesis concerning the development of hereditary drusen is advanced, postulating a disturbance of the lysosomal enzyme/inhibitor balance.
Subject(s)
Choroiditis/genetics , Aged , Basement Membrane/pathology , Choroid/pathology , Choroiditis/pathology , Ciliary Body/pathology , Cornea/pathology , Female , Humans , Hyalin/metabolism , Pigment Epithelium of Eye/pathology , Retina/pathologyABSTRACT
The occurrence of aplasia and hypoplasia of the optic nerve in man and in mammals is described. A secondary aplasia may result from additional malformations of the central nervous system. Primary aplasia may be studied in mutants of the house mouse, which show that not only the blood vessels, but also changes in time and location of the physiologic cell necrosis may be important.
Subject(s)
Optic Nerve/abnormalities , Abnormalities, Drug-Induced , Animals , Cell Survival , Humans , Mice , Mutation , Optic Nerve/embryologyABSTRACT
The case is reported of a 32 year old female with diabetes mellitus, tapeto-retinal degeneration and neurogenous deafness combined with congenital dyserythropoietic anemia. The ophthalmological, otological, neurological and hematological findings are discussed and compared with those in the literature. Light microscopic and ultrastructural aspects of erythroblasts in congenital dyserythropoiesis of type III are shown. With the exception of the congenital dyserythropoietic anemia, the clinical findings cn be attributed to Alström syndrome.
Subject(s)
Diabetes Mellitus, Type 1/genetics , Adult , Anemia/congenital , Diabetic Retinopathy , Female , Hearing Disorders/complications , Humans , Pedigree , SyndromeABSTRACT
Dysplasia opticoseptalis was diagnosed in a one-year-old girl. At autopsy an agenesis of the olfactory bulb and other developmental anomalies of the brain were found.
Subject(s)
Septum Pellucidum/pathology , Brain/abnormalities , Female , Humans , Infant, Newborn , Optic Atrophy/embryology , Optic Atrophy/pathology , Optic Nerve Diseases/pathology , Tomography, X-Ray ComputedABSTRACT
In mammals the major portion of cyanide is converted to thiocyanate by the liver enzyme thiosulfate sulfur transferase (TST) (rhodanese). We have found a much reduced activity of this enzyme in liver biopsies from two affected males of a family with Leber's hereditary optic atrophy and in two isolated cases of the same disease, (compared to liver biopsies from controls or liver samples obtained at autopsy). In one of the patients we studied the effect of a 3-day thiosulfate infusion. The urinary excretion of thiocyanate which was low prior to the infusion was raised during the thiosulfate treatment; in a healthy control person the same thiosulfate infusion did not alter the thiocyanate excretion rate. This suggests that cyanide detoxification which is suboptimal in patients with Leber's disease may be increased by thiosulfate infusion.
Subject(s)
Optic Atrophy/enzymology , Optic Atrophy/genetics , Sulfurtransferases/deficiency , Thiosulfate Sulfurtransferase/deficiency , Adolescent , Adult , Biopsy, Needle , Cyanides/metabolism , Female , Humans , Liver/enzymology , Liver/pathology , Male , Middle Aged , Pedigree , Thiosulfate Sulfurtransferase/metabolismABSTRACT
Stearic, oleic, linoleic, arachidonic, and docosahexaenoic acids can be detected regularly in the eyes and retinae of mice. During the period of maturation of the outer segments of the rod, the amount of each fatty acid increases, the most striking feature of which is the accumulation of docosahexaenoic acid in the retina, which might reflect the growth of rod outer segments. In rd/rd mice, fatty acid synthesis is reduced and the change characteristic of docosahexaenoic acid is absent. Analysis of the structure of outer segment disc membranes by the freeze fracturing technique, however, shows that the structure of the membrane is probably not affected by the rd gene.