R. Stein

Blue sclerae and keratoconus: Key features of a distinct heritable disorder of connective tissue

A syndrome of keratoconus, blue sclerae, middle ear bony conduction defect and spondylolisthesis occurring in a brother and sister born to consanguineous parents is described. Eleven similar cases reported in the literature are reviewed. The narrow range of phenotypic expression and the clcar pattern of heredity suggest that this is a distinct autosomal recessive disorder of connectivc tissue. It is postulated that the basic defect in this syndrome involves an alteration in the biosyntheis of collagen.

Leaking filtering blebs.

Histologic examination of ten leaking filtering blebs revealed an epithelial tract running from the surface of the bleb down to the episclera in eight cases. These epithelial tracts were considered the real cause of the persistent leakage.

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.

Primary Retinal Dysplasia Transmitted as X-Chromosome-Linked Recessive Disorder

The familial occurrence of retinal dysplasia in five affected male children suggested X-chromosome-linked recessive inheritance. The clinical features were childhood onset, severe visual impairment, head posture, nystagmus, and strabismus. The ophthalmoscopic findings varied in shape and extension; they ranged from retinal folds to dysplastic tissue covering the posterior pole or gliosis with tumor-like protrusion in the vitreous. The marked variability of the retinal findings was paralleled by the visual acuity, which ranged from some vision to blindness. Electroretinograms coordinated well with ophthalmoscopic observations. Of the five mothers, who are the presumed heterozygous carriers, two showed retinal changes.

Yeasts in Banal External Ocular Inflammations

In 53 out of 313 patients suffering from longstanding inflammations of the outer eye or dacryocanaliculitis, not yielding to the obligate treatment with antibiotics and steroids, yeasts were isolated and regarded as the causative agents. Among the yeasts, different Candida species were prevalent, with C. albicans and C. guillermondii at the top. An obstinate, superificial epithelial and subepithelial punctate keratitis appeared to represent an entity pathognomonic of a yeast infection. Eradication of the yeasts and cure of the inflammation was achieved only by intensive prolonged treatment with Mycostatin or amphotericin B.

Treatment of External Ocular Candida Infections with 5-FIuorocytosine

15 patients who suffered from severe and prolonged external Candida ocular infections and who had not responded to Mycostatin and/or Amphotericin B treatment, were successfully treated with 5-Fluorocytosine administered topically or combined topical-orally. In all patients, a cure was achieved after a treatment period of approximately 6 months. No side effects were observed and no resistance to the drug developed.

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.