A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia.

We describe 19 cases of a familial syndrome consisting of infantile optic atrophy and an early movement disorder in which chorea predominated. About one-half the patients developed spastic paraparesis during the second decade of life. Ataxia and cognitive deficits were common, usually of mild degree. Seventeen of the patients were females. Sixteen had similarly affected siblings, but none had affected parents. All but one belonged to the Iraqi Jewish community in Israel, giving a minimal prevalence rate in this ethnic group of about 1:10,000.

Tear calcium and magnesium levels of normal subjects and patients with hypocalcemia or hypercalcemia.

Tear calcium and magnesium levels were measured in eight patients with hypercalcemia and two patients with hypocalcemia and compared to that of 72 subjects with normal serum calcium and magnesium levels. No correlation was found between tear and serum calcium and magnesium levels. Tear calcium level has no diagnostic importance.

Autosomal recessive Peters anomaly, typical facial appearance, failure to thrive, hydrocephalus, and other anomalies: further delineation of the Krause-Kivlin syndrome.

Two cousins and an unrelated patient, all offspring of consanguineous parents, presented with Peters anomaly, unusual facial appearance, disproportionate short stature, retarded skeletal maturation, and a variable degree of mental retardation. Variable digital, cardiac, CNS, and urogenital anomalies were present. The inheritance is probably autosomal recessive. The condition is a distinct clinical entity for which we suggest the eponym Krause-Kivlin syndrome. Peters anomaly is thought to result from abnormal migration of neural crest cells. A similar mechanism was implicated in the pathogenesis of other disorders of the anterior chamber. The presence of Peters anomaly, and possibly of other corneal endothelial disorders in a newborn infant, should alert the clinician to the possibility of this syndrome. Communicating hydrocephalus (or brain atrophy) and polyhydramnios were documented in two patients, potentially allowing prenatal diagnosis in secondary familial cases.

Presenile cataracts in phenytoin-treated epileptic patients.

Cataracts developed in two young adults who were receiving prolonged antiepileptic treatment with phenobarbital sodium and phenytoin sodium. The known side effects of these drugs are serious and varied, and phenytoin is strongly implicated in the etiology of cataracts in human beings. Results of our research study on rats supported our view on the cataractogenic action of phenytoin.

Spontaneous hyphema and vessel anomaly.

We describe a case of spontaneous hyphema, in which results of fluorescein angiography revealed that the condition was caused by anomalous iris vessels. A cavernous hemangloma of the ipsilateral orbit was discovered. We stress the importance of performing fluorescein angiography in all cases of spontaneous hyphema.

The Israeli Ocular Injuries Study. A nationwide collaborative study.

A nationwide study of patients hospitalized for ocular injuries was conducted in Israel during the years 1981 through 1983, with the participation of 17 ophthalmic departments. The study comprised 2276 patients (2416 eyes), 47% of whom were children. The male-female ratio was 4.3:1. Bilateral injuries occurred in 140 patients, with children sustaining the most severe injuries. Ocular injuries occurred most frequently at home, and children at play were most vulnerable. Most patients retained good vision, 3.7% lost vision totally, and 2% of the eyes had to be enucleated.

Eye injuries in children in Israel. A nationwide collaborative study.

A nationwide prospective collaborative study on ocular trauma was performed in Israel during a period of 3 years (1981 through 1983). Almost half of the traumas (1127 [47%] of 2416 eyes) were sustained by children younger than age 17 years, and mainly between the ages of 6 and 12 years. Most of the injuries happened at home (38.1%) or in the street (26.8%) and during play and sport (65.1%). The male-to-female ratio among the children was 4:1. Blunt injuries accounted for 59.2%; 30.5% were perforating injuries and the rest were chemical and radiation injuries. The visual acuity at the time of hospital discharge was better than 6/30 in the majority of the eyes but 122 patients (11%) had a visual acuity of less than 6/60, and no light perception was the result in 40 eyes (3%). The reasons for the severe outcome were as follows: 23 eyes (2%) owing to phthisis, 22 eyes (1.9%) were enucleated, and 16 eyes (1.4%) suffered from endophthalmitis.

Panuveitis responsive to 2-CdA: an unusual ocular presentation of hairy cell leukemia.

Systemic involvement in hairy cell leukemia (HCL), has rarely been reported but ocular involvement is extremely uncommon. We report an unusual ocular presentation of HCL due to panuveitis with dramatic improvement following treatment with 2-chlorodeoxyadenosine (2-CdA).

Retinal damage after argon laser iridotomy.

We conducted a prospective clinical study to evaluate potential retinal damage after argon laser iridotomy in 25 eyes of 22 patients with primary chronic angle-closure glaucoma. Kinetic perimetry and ophthalmoscopy showed no detectable damage. Iridotomy required a mean of 11.4 +/- 10 joules to achieve a patent coloboma of 200 micron after one to three sessions. Dark-prone and mydriasis tests were performed one month after surgery. Pilocarpine was discontinued in all cases. Both static perimetry and fluorescein angiography of the midperiphery corresponding to the meridian of laser coloboma done six months after surgery showed focal damage. There was no damage in control tests of the same eyes in an opposite area of the retina.

An atypical fulminant course of choroidal osteoma in two siblings.

We studied two cases of bilateral choroidal osteoma in an otherwise healthy 5-year-old boy and his only sibling, a 7-year-old sister. Both children were known to have normal fundus appearances at younger ages. The tumor showed slow growth in all four eyes, but severe visual acuity loss developed in three eyes because of neovascular complications that could not be effectively treated by photocoagulation. Secondary retinal cysts developed in three eyes.

Bilateral retinal vasculitis associated with clotting disorders.

We found distinct alterations of the clotting and fibrinolytic mechanisms in a 27-year-old man who suffered from typical bilateral vasculitis, clinically and fluoroangiographically manifest as obstruction of the central retinal veins. The partial thromboplastin time was slightly increased, a partial clot lysis occurred after one hour, the plasminogen level was markedly low, and alpha2-macroglobulin was decreased, as were factor XII and IgG. Kallikrein was absent. Similar changes, though not so pronounced, were also found in the patient's son and in his brother.

Ocular manifestation of hairy cell leukemia with dramatic response to 2-chloro-deoxy-adenosine.

PURPOSE: To demonstrate that hairy cell leukemia may involve the eye. METHODS: We examined a patient who had a unique ocular manifestation of hairy cell leukemia with severe panuveitis in one eye and leukemic retinopathy in the fellow eye. RESULTS: Therapy with 2-chloro-deoxy-adenosine, a drug recently introduced for treatment of hairy cell leukemia, led to dramatic improvement of the ocular complications. CONCLUSIONS: Hairy cell leukemia may involve the eye and ocular symptoms may respond to systemic treatment with 2-chloro-deoxy-adenosine.

Lysozyme content of tears in patients with Sjögren's syndrome and rheumatoid arthritis.

In 37 patients and 143 control patients we estimated tear fluid lysozyme content by the Micrococcus lysodeikticus agar diffusion assay. We found no correlation between the titer of lysozyme in tear fluid and the rate of tear flow. Decrease in lysozyme production was found to be a sensitive indicator of the involvement of the lacrimal system in Sjögren's syndrome.

Transient ocular hypertension following trabeculectomy.

A study of the postoperative evolution of 70 eyes subjected to trabeculectomy over a 3-year period is reported. This is the operation of choice in our department in cases of chronic open-angle glaucoma and chronic angle-closure glaucoma. The study showed that in 35.7% of the operated eyes the intraocular pressure was increased on the second postoperative day and became normal within a week. This raised intraocular pressure did not influence the final result of the operation.

Evaluation of laser iridectomy in angle-closure glaucoma: provocative tests.

An argon laser iridectomy was performed on 18 eyes of 14 patients with closed-angle glaucoma. The intraocular pressure (IOP) was controlled in all but one eye within normal limits. Variable amounts of pigment were found on gonioscopy in all cases. The mydriasis test was positive in one eye (5.5%) after homatropine and in 5 eyes (28%) after tropicamide drops. 80% of the positive results occurred in lightly pigmented irides. The dark-prone position test was positive in 7 eyes (38%), 71% of the positive results occurring in heavily pigmented irides. Tomography was also performed; the possibility of trabecular damage is discussed.

The effect of topical ceftazidime on pseudomonas keratitis in rabbits.

Ceftazidime is a beta-lactam antibiotic highly effective against Pseudomonas aeruginosa infection. Using a rabbit model of Pseudomonas keratitis, 10(3) bacteria (in 20 microliters) were injected unilaterally into the corneal stroma of albino rabbits. Twenty-six hours after inoculation, topical Ceftazidime (50 mg/ml) drops were administered for 48 h, following which the corneal tissue was cultured. Eighteen of 20 corneal cultures (90%) from rabbits treated with Ceftazidime drops were negative. In comparison, all untreated control group cultures showed florid bacterial growth. These results suggest that topical Ceftazidime may be a useful agent in the treatment of P. aeruginosa keratitis.

Septic retinitis.

A case of septic occlusion of the retinal vessels causing severe endophthalmitis is presented. The documentation of the retinal involvement before development of the abscess with photography and fluorescein angiography is rather exceptional. Although pars plana vitrectomy saved the eye, the vision was lost because vascular occlusion caused a retinal tear with retinal detachment.

Endophthalmitis due to Salmonella typhimurium.

A 1-year-old female patient is described who suffered from sepsis and endophthalmitis due to Salmonella typhimurium. This Salmonella species rarely causes septicemic syndrome or focal infection of body organs. As far as we know this is the first case report of endophthalmitis caused by S typhimurium despite its high frequency among Salmonella infections not caused by S typhi.

Ocular abnormalities in chronic familial hyperphosphatasemia.

The ocular findings in two patients with Chronic Familial Hyperphosphatasemia are described in detail. They consist mainly of abnormal pigmentation, the presence of retinal folds of variable degree, and angioid streaks. It is suggested that these changes are in relationship to abnormal collagen metabolism and that CHF is not only a bone dysplasia but a more generalized condition with variable extraskeletal manifestations.

Leber's optic neuropathy--a cytogenetic study of a family.

The present report describes a family with Leber's optic neuropathy. The cytogenetic findings in this family, as well as some clinical features, are suggestive of a slow viral infection with vertical transmission as a possible cause of the disease.