Linkage study between congenital cataracts and five crystallin loci.

Congenital cataracts are a common cause of preventable blindness in children. We studied autosomal dominant congenital cataracts in 38 families and examined linkage between cataract loci and the crystallin genes on chromosomes 2, 11, 17, 21, and 22. We used clinical information to group families with phenotypically similar cataracts and analyzed the genetic data in these groups.

Recombinant interferon alfa-2b in the treatment of vision-threatening capillary hemangiomas in childhood.

Introduction: Hemangiomas of the orbit and eyelids may cause serious ocular problems usually related to amblyopia and astigmatism. Steroids have become the accepted treatment. However, some hemangiomas are resistant to steroids or require prolonged use,with unacceptable side effects.

Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma.

Mutations in the trabecular meshwork induced glucocorticoid response protein (TIGR) or myocilin (MYOC) has recently been shown to cause juvenile onset primary open angle glaucoma (JOAG). In this study, we identified two new mutations (Asp380Ala and Ser502Pro) in two British families and another (Pro370Leu) in a French-Canadian family. These mutations were not present in a total of 106 normal chromosomes.

Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1.

We recently reported three truncating mutations of the cytochrome P4501B1 gene (CYP1B1) in five families with primary congenital glaucoma (PCG) linked to the GLC3A locus on chromosome 2p21. This could be the first direct evidence supporting the hypothesis that members of the cytochrome P450 superfamily may control the processes of growth and differentiation. We present a comprehensive sequence analysis of the translated regions of the CYP1B1 gene in 22 PCG families and 100 randomly selected normal individuals.

Pattern electroretinogram and spatial contrast sensitivity in primary congenital glaucoma.

Objective: The authors investigated the temporal and spatial characteristics of pattern electroretinogram (PERG) and spatial contrast sensitivity (CS) in primary congenital glaucoma (PCG) to determine whether the PERG and CS could be useful tools in the diagnosis of childhood glaucoma, especially PCG.

Participants: The PERGs were evaluated in eyes from ten patients with PCG and nine age-matched visually normal subjects.

Intervention: All patients received complete ophthalmologic evaluations including visual field testing.

A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region.

Primary congenital glaucoma (gene symbol: GLC3) is an ocular disorder that occurs for 0.01-0.04% of blind people.

On- and off-responses in the photopic electroretinogram in complete-type congenital stationary night blindness.

We examined the on- and off-responses of the photopic electroretinogram in patients with complete congenital stationary night blindness. Standard flash electroretinograms as well as those produced in a ganzfeld modified for long-duration light stimuli (500 msec) permitted the separation of on- and off-responses in four patients and four normal subjects. The amplitude and latency of the elctroretinogram on-response (a- and b-waves) and off-response (d-wave) in addition to the oscillatory potentials of the off-response in normal subjects and patients were compared.

Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity.

Primary congenital glaucoma (GLC3) is an inherited eye disorder that accounts for 0.01-0.04% of total blindness.

Clinical evaluation of aminocaproic acid for managing traumatic hyphema in children.

Purpose: The purpose of this study is to determine the incidence of secondary hemorrhage after traumatic hyphema in children and to evaluate the efficacy of epsilon aminocaproic acid in reducing this incidence.

Methods: In a prospective, randomized, double-blind study performed between November 1987 and February 1994, 94 children admitted for traumatic hyphema were assigned to receive either aminocaproic acid (n = 48) (100 mg/kg every 4 hours; maximum, 30 g daily) or placebo (n = 46) for 5 days. Patients who had ingested aspirin in the week preceding admission were excluded from the study.

Maturation of binocular pattern visual evoked potentials in normal full-term and preterm infants from 1 to 6 months of age.

The purpose of this study was to evaluate the visual development of preterm infants from 1 to 6 mo of age, using the pattern visual evoked potentials (VEP) in response to three check sizes: 60, 30, and 15 min of arc. Pattern VEP were recorded in 24 full-term and 24 preterm infants (26-36 wk of gestation). The results showed a rapid visual maturation between 1 and 3 mo, followed by a slower progression over the next 3 mo, in both groups.

Ocular findings and visual evoked potential response in the Prader-Willi syndrome.

It has recently been suggested that aberrant misrouting of retino-geniculate-cortical (RGC) projections, a finding previously noted only in albinism, may be an additional feature of the Prader-Willi syndrome. To determine the prevalence of ocular abnormalities in patients with the syndrome and to look for evidence of misrouted RGC projections by means of testing of the pattern-onset visual evoked potential (VEP) response, we examined 12 patients with Prader-Willi syndrome, 8 albino subjects and 5 healthy control subjects. Ocular findings in the first group included telecanthus (in five subjects), strabismus, nystagmus, foveal hypoplasia, visual field defects and cataract.

Peters' anomaly. The spectrum of associated ocular and systemic malformations.

The cases of Peters' anomaly seen over the past decade, at Hospital Ste-Justine in Montreal, are reviewed. Associated ocular anomalies were observed in 50% of cases while 60% of patients presented with associated systemic defects. It is clear, from these patients and those reported in the literature, that Peters' anomaly can be an isolated condition, or part of distinct syndromes: the Krause-Kivlin syndrome or the Peters'-plus syndrome.

Bimedial rectus recession measured from the limbus for congenital esotropia.

We reviewed the surgical results of bimedial rectus muscle recession measured from the limbus in 34 patients with congenital esotropia less than 1 year of age. The mean amount of recession was 10.8 mm.

First cytogenetic evidence of homozygosity for the retinoblastoma deletion in chromosome 13.

Retinoblastoma (Rb) provided the first model in which both normal alleles of a recessive gene had to be lost as a prerequisite for tumorigenicity. However, region q14 of chromosome 13 appears cytogenetically normal in the majority of Rb tumors, and no homozygotic deletion had previously been observed. High-resolution cytogenetics of an Rb tumor revealed a homozygotic deletion in bands q13.

Inferior oblique myositis presenting as superior oblique muscle palsy.

A 14-year-old girl presented with progressive vertical strabismus simulating superior oblique muscle palsy. However, because of the presence of limitation of infraduction, computed tomography was done; it showed a large mass in the region of the right inferior oblique muscle. A biopsy specimen of the enlarged muscle showed mainly degenerative and some regenerative changes.

Incidence and prognosis of childhood glaucoma. A study of 63 cases.

Sixty-three consecutive cases (95 eyes) of glaucoma in children were studied. Glaucoma associated with congenital anomalies (group II) formed the largest group in this study. This accounted for 46% of the cases compared to primary congenital glaucoma (group I) that accounted for 22.

Nonteratoid medulloepithelioma of the ciliary body.

A 34-month-old girl was treated for anterior uveitis, a superiorly subluxated cataract, rubeosis iridis and secondary glaucoma of the right eye of 3 months duration. She was diagnosed as having medulloepithelioma only after a mass was subsequently identified on the anterior surface of the iris. A low grade malignant nonteratoid medulloepithelioma was found to involve the ciliary surface throughout the circumference of the enucleated right globe.

Medial rectus insertion site in congenital esotropia.

Because of the clinical observation that in patients with congenital esotropia the medial rectus is inserted closer to the limbus than we have classically been taught, the distance between the medial rectus insertion site and the limbus was measured at the time of corrective surgery in 26 infants under 1 year of age with congenital esotropia. The distance in the 52 eyes was found to vary between 3.0 and 5.