[Callosogenital dysplasia]. / Dysplasie calloso-génitale.

A nosological entity, calloso-genital dysplasia, is described from a case of primary amenorrhoea with coloboma and total agenesis of the corpus callosum. Deficiency of the thalamic gonadotropic hormone secretion was elicited, together with normal or moderately elevated prolactinaemia, the significance of which is discussed. Thyrotropic, somatotropic and corticotropic functions were normal. It may be that the hypogonadotropic eunuchoidism of this 24-year old woman with normal olfaction evolved towards panhypopituitarism over a number of years, but in such a malformation that had not changed since birth the thalamic hypophysiotropic dysfunction seems to be fixed and stable. Unless a most unlikely coincidence occurred, the primary amenorrhoea seems to be related to the malformation. Agenesis of the corpus callosum with panhypopituitarism is well known, but this case is original in that the pituitary deficiency is very limited. A comparison with its mirror image, olfacto-genital dysplasia or Kallman's syndrome is tempting, but it remains to be documented anatomically by other cases.

The ultrastructural pathological features of congenital microcoria. A case report.

We describe the light microscopic, immunohistochemical, and electron microscopic findings in a sporadic case of congenital microcoria in a 72-year-old man with senile cataract. We demonstrated a lack of myofilaments and desmin in the stromal cytoplasmic processes of the anterior pigmented cells of the iris, although other features of muscle differentiation were present in these few surviving cell processes that normally form the pupil dilator muscle. Degenerative changes in anterior pigment cells and iris stromal atrophy were thought to be late secondary features of microcoria. The findings suggest that congenital microcoria results from a defect of intermediate filaments in the terminal fetal stages of differentiation of the anterior pigmented epithelial cell of the iris, with absence of myofilaments and consequent failure of development of a functional dilator pupil muscle.

Clinical manifestations of ectopia lentis et pupillae in 16 patients.

The largest known series of patients with ectopia lentis et pupillae (ELeP) was clinically evaluated. Sixteen patients from eight families were characterized with respect to ocular anomalies. Variability between eyes of the same patient and among different patients was marked. In addition to the well-known but inconstant displacement of the lens and pupil, other characteristics of this protean syndrome included severe axial myopia (and associated fundus abnormalities), poor vision, retinal detachment (RD), enlarged corneal diameters, cataract, abnormal iris transillumination, poor pupillary dilatation, persistent pupillary membranes, iridohyaloid adhesions, and prominent iris processes in the anterior chamber angle.

Hereditary cases of congenital microcoria and goniodysgenesis.

Presented here are hereditary cases of congenital microcoria associated with goniodysgenesis. The proband was a 64 year-old woman with poor development of collarettes and crypts of the iris. Gonioscopic examination revealed anterior chamber irregularities. Three out of six of her siblings suffered from the same anterior chamber anomaly but did not have glaucoma. All the affected members had microcoria associated with goniodysgenesis which was transmitted in an autosomal dominant pattern.

[Persistent pupillary membranes in a cynomolgus monkey].

Three thousand and five apparently healthy cynomolgus monkeys (Macaca fascicularis) were examined for the finding of the anterior part of the oculi by using an ophthalmoscope. One drop of the mixed solution of 0.5% tropicamide and 0.5% phenylephrine hydrochloride was instilled into each eye of the animal. Then, those monkeys were anesthetized with ketamine-HC1 at the dose level of 10 mg/kg B. W.. One monkey had opaque membranes of tan to brown color, extending from some part of collarette of the iris to the other part of collarette like the network over the pupil. This finding was diagnosed to be bilateral persistent pupillary membranes. Further breeding studies will be carried to determine if this case in hereditary.

Aniridia: enzyme studies in an 11p--chromosomal deletion.

A patient with aniridia and an interstitial deletion of the bands p13-p14 of the short arm of chromosome 11 was studied to determine the relative locations of the gene(s) encoding for the aniridia-Wilms' tumor association with other genes on the same chromosome. Quantitative analysis was performed on the red blood cell enzymes lactic acid dehydrogenase-A (LDH-A) and catalase, the genes for which are located on the short arm of chromosome 11. The activity of LDH-A was normal; the activity of catalase was reduced to approximately half normal. This evidence supports loci for the genes encoding for both catalase and the aniridia-Wilms' tumor association within the bands p13-p14 of the short arm of chromosome 11; the normal activity of LDH-A supports a locus outside this region.

[Malformations of the eyeball: management]. / Malformations du globe oculaire: conduite à tenir.

Congenital or early postnatal ocular malformations are analyzed (first part) in order to specify the ophthalmologist's role (second part). This includes determining the risk of visual loss, evaluating evolutive characteristics and preventing development of amblyopia. Improvement in prognosis is ascribable to significant advances in medical techniques; it ought to be a result of improved screening and better prevention due to early referral.

[Convergent strabismus with eccentric fixation in a case of persistent pupillary membrane]. / Strabismus convergens mit exzentrischer Fixation bei Membrana pupillaris persistens.

Case report of a now 9-year-old boy with a pronounced persistent pupillary membrane in both eyes combined with amblyopia and eccentric fixation in the right eye and a convergent squint. After surgery removing the persistent pupillary membrane in both eyes at the age of 4 years, pleoptics and orthoptics were applied. Visual acuity and eccentric fixation did not improve. Strabismic surgery was carried out with good cosmetic result. Aetiologically, one can assume a deprivation by the persisting pupillary membrane.

Ectopia lentis et pupillae.

Two brothers whose parents were second cousins had ectopia lentis et pupillae. This autosomal recessive disorder is distinguished from other disorders with ectopia lentis by the limitation of abnormalities to the bilateral displacement of lens and pupil.

Ocular features of Aicardi's syndrome.

Four cases of Aicardi's syndrome are reported. The constant features of this syndrome are infantile spasms, chorioretinopathy, and agenesis of the corpus callosum. The chorioretinopathy appears to be a defect of the pigment epithelium and choroid without significant retinal involvement. Additional ocular features include microphthalmia, colobomas of the optic nerve and choroid, persistent pupillary membrane, and glial tissue extending from the disc. The cause of the syndrome is uncertain. It occurs only in females and is nonfamilial. A male lethal syndrome resulting from a gene on the X chromosome occurring as a spontaneous mutation has been suggested. The possible role of intrauterine infection needs further investigation.

Complicated colobomatous microphthalmos in the BW rat: a new form of inherited retinal degeneration.

A new model of inherited retinal degeneration has been found in the rat. It is inherited in association with a number of other ocular defects, including microphthalmos, coloboma, retinal dysplasia, optic nerve hypoplasia and/or aplasia, as well as medullation of the nerve fiber layer of the retina. Together, these abnormalities constitute a condition referred to as complicated colobomatous microphthalmos. This condition was originally discovered in the Bmn strain of rats but subsequently transferred to a new genetic background in the Bmn-wys strain of rats (BW). This facilitated the histological evaluation of both the developmental and degenerative ocular defects in the adult animals. A well defined pattern emerged relating eye size, optic nerve size and retinal histology. Normal-sized eyes had normal-sized optic nerves and normal retinal histology while intermediate-sized eyes with no optic nerves had uniformly thin retinas. In contrast, intermediate-sized eyes with small optic nerves had areas of both normal thickness and thin retina. All of these eyes developed retinal degeneration characterized by a late onset and slow progression associated with normal phagocytic activity in the pigment epithelium and a tendency for the rod outer segments to fragment into very thin structures rather than accumulate as lamellar debris. This indicates that the retinal degeneration in the BW model differs in many respects from the well studied RCS model.