Lucian Regenbogen

Further evidence for an autosomal dominant form of oculoauriculovertebral dysplasia

A family with oculoauriculovertebral dysplasia is reported in which there are nine affected members spanning three consecutive generations. It is concluded that despite the known genetic heterogeneity in this disorder, there is an autosomal dominant form. Thus, genetic counseling can only be given after proper completion of all the necessary clinical and family studies.

Ocular deficiencies in deaf children.

In a sample of 150 deaf children, 45.3% were found to present ocular anomalies interfering with good vision. This high frequency of visual impairment contributes to the low-level functioning and lack of normal developmental drives characteristic of deaf children. Early identification, competent diagnosis and appropriate intervention by a team of specialists are required in the treatment of such cases.

Cataractogenic Factors in Patients with Primary Angle-Closure Glaucoma After Peripheral Iridectomy

In this retrospective study we evaluated 154 patients with primary angle-closure glaucoma operated on by peripheral iridectomy to determine the factors contributing to the high occurrence (57%) of cataracts. Cataract formation in an eye operated on by peripheral iridectomy was age-dependent and less related to the time after surgery. The acute attack enhanced the appearance of the lenticular changes but did not influence the overall occurrence of cataracts in older patients.

Retinal Breaks Secondary to Vascular Accidents

Seven retinal breaks occuring after occlusion of a major retinal arterial or venous branch were found in the eyes of six patients. Five holes were in the midretina, in a nonperfused avascular area corresponding to the sector affected by the vascular accident. One was a macular hole, and one a horseshoe tear outside the area involved in the vascular occlusion caused by traction of vitreous on a tuft of neovascular tissue. Five of the holes may have been caused by a kind of sequestration of the retina secondary to vascular insufficiency.

Hereditary vitreoretinal degeneration, cleft lip and palate, deafness, and skeletal dysplasia.

Two brothers and their mother had vitreoretinal degeneration associated with cleft palate, a peculiar physiognomy, skeletal anomalies, and sensorineural deafness. The pattern of inheritance in this family suggested autosomal dominant transmission.

Arterial Macroaneurysm of the Retina

Macroaneurysms of the retinal arteries were found in both eyes of a patient suffering from systemic hypertension. The development of the aneurysms were related to high blood pressure attacks. Treatments with low energy laser coagulation reduced the aneurysms, preserving good patency of the vessels. In the right inferior temporal artery, an untreated focal narrowing deteriorated to an occlusive fibroblastic proliferation, emphasizing how damaging the course of the disease may be.

FUNCTIONAL EVALUATION IN HARADA'S DISEASE

A 21‐year‐old woman suffering from Haradas disease was carefully evaluated during a three year follow‐up study. In the acute stage of the disease the electroretinographic changes were found to parallel the clinical course. The functional parameters indicate that the retinal involvement is localized in the layers which generate the electroretinogram.

Rod Monochromatism - An Incomplete Form

An incomplete form of rod monochromatism is described in a young man with normal visual acuity and absence of nystagmus or photophobia. ERG showed normal threshold sensitivity in white and blue lights but virtual absence of the first portion of response in red light. The sensory threshold curve lacked the typical rod-cone discontinuity, whereas the curve after full dark adaptation was normal. It is suggested that the condition is due to atypical disfunction of the cones.

Clinical Variability in Vitreoretinal Degeneration

Three families with a wide range of vitreoretinal degeneration, median cleft face syndrome and skeletal anomalies are described. Their autosomal dominant transmission and phenotypic spectrum are presented. In view of the similarity between these patients and the clinical overlap existing between them, it is assumed that they are all the same entity forming parts of a continuum. As the pleiotropic gene has such different and varying expressivity with regard to the organ system involved, it is presumed that the dominance in this complex disorder is irregular.

Functional Evaluation in Central Retinitis Pigmentosa

Three patients with central retinitis pigmentosa were investigated in a 5-year follow-up study. The psychophysical and electrophysiological data show the involement of both the central and peripheral photoreceptors and their continuous functional deterioration with time. This conclusion could be demonstrated under all conditions of testing indicating the polymorphism of the disease. The results and the lack of genetical involvement make it difficult to relate this condition to the classical pigmentary retinal degeneration. This data emphasizes the importance of clinical reevaluations and serial electrophysiological testing in order to differentiate between the stationary periods and the progressive deterioration in this disease.