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PubMed1978

Retinoblastoma in a microphthalmic eye.

A case of simultaneous occurrence of microphthalmus and retinoblastoma in an eye removed from a 1-year-old monozygote twin with bilateral retinoblastoma, is reported. The other eye was of normal size, and was treated with irradiation (local application of Stallard disc). This case seems to be the first one published showing that one cannot be usre of the absence of tumours in small eyes although it is extremely rare.

Diseases in Twins↗
PubMed1981

Intracranial calcification in oculodento-osseous dysplasia.

Oculodento-osseous dysplasia (ODOD) is a rare genetic disorder characterized by microphthalmia, hypoplasia of the dental enamel, dysplastic and sclerotic changes in the skeleton and various digital malformations. The occurrence of basal ganglion calcification in this condition is of considerable interest, particularly as it has some biochemical features in common with hypoparathyroidism and pseudohypoparathyroidism. The 2 patients presented in this article did not show any features of an extrapyramidal disorder, but both experienced progressive spasticity in the limbs. The neurological disturbance was not due to compression of the neuraxis by bony overgrowth, but to an associated neurological lesion of undetermined nature. The biochemical abnormalities are discussed but as yet no explanation for the association between intracranial calcification and ODOD can be offered.

Abnormalities, Multiple↗
PubMed1983

Lenz microphthalmia: a malformation syndrome with variable expression of multiple congenital anomalies.

Lenz microphthalmia is a syndrome of microphthalmia accompanied by multiple congenital anomalies, none of which is unique to the syndrome. The patient described in this paper had, in addition to the microphthalmia, dysmorphic facies and dental anomalies, several features not previously described in this syndrome: synophrys, an isolated cleft of the soft palate, a webbed neck and sacral pits. Other congenital syndromes associated with microphthalmia (oculodentodigital dysplasia, cryptophthalmos and the 10q+ syndrome) were excluded. The frequency of the anomalies described in 22 case reports is presented as a guide to diagnosis in isolated cases.

Abnormalities, Multiple↗
PubMed1978

Ocular retardation (or) in the mouse.

The ocular retardation (or) mutation in mice has been studied morphologically in serial 1 mu sections. This recessively inherited, fully penetrant mutation is characterized by an early arrest of retinal development, aplasia of the optic nerve, cataractous degeneration of the lens, and microphthalmia. We describe early alterations of normally occurring morphogenetic cell death in the optic cup and aberrations of optic fissure formation which appear to precede the arrest of retinal and optic nerve development. The subsequent disappearance of central retinal vessels and cataract formation are interpreted as secondary phenomena.

Animals↗
PubMed1983

Microphthalmia, retinal dysplasia, and anterior segment dysgenesis in a litter of Doberman Pinschers.

Blindness was found in 5 of 11 7-week-old Doberman Pinscher littermates. Each eye in the affected pups had moderate to marked corneal opacification, and there was variable microphthalmia. Gross and microscopic examination of the globes revealed multiple ocular defects highlighted by anterior segment and lenticular dysgenesis, hyperplastic primary vitreous, and retinal dysplasia. The cause of the ocular malformations was undetermined.

Abnormalities, Multiple↗
PubMed1978

[Effect of experimental arrest of eye growth on the proliferation and polyploidization of the retinal pigment epithelium in rats].

Following the lens removal from the left eye of the newborn rats, animals were obtained with one normal (control) and another microphtalmic eye. The animals were sacrificed on the 2nd, 3rd, 5th, 7th and 9th days of postnatal development after four injections of 3H-thymidine during 19 hrs. The number of labelled nuclei and mono- and binuclear cells in the central zone of the eye fundus was counted on the autographs. After the initial increase of the index of labelled nuclei in the operated eyes (on the 2nd, 3rd and 5th days) it fell below the control level (on the 7th and 9th days). The number of binuclear cells in the operated eyes, as well as in the control, attains on the 5th day 50% of the total number of cells and remains at this level up to the end of the experiment, whereas in the control eyes the number of binuclear cells increases up to 60% on the 7th and 80% on the 9th day. The results obtained have shown that in rats the factors of total eye growth participate in the control of proliferative activity and polyploidization of the pigment epithelium cells in the retina.

Age Factors↗