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In the last decade, health indicators in Latin America and the Caribbean reflect advances. The per capita public expenditure on health care has increased in many countries. Despite these improvements, it is estimated that for every million population in Latin America and the Caribbean, 5,000 are blind and 20,000 are visually impaired; at least 66% of the blindness is attributable to treatable conditions such as cataract. The cataract surgery rate in the region remains low as compared to the industrialized countries, although it is higher than many other regions of the world. The availability of eye care services varies from country to country within the region, and the number of ophthalmologists per million population in the richest countries may be nine times more than in the poorest. Access, defined as the distance between the consumer and the services, is problematic in countries with isolated areas in the rainforest or high mountains, poor road systems, or lack of public transportation. Affordability is an important issue that limits utilization of services by the poorest segments of the population in nearly all countries in Latin America and the Caribbean.

Purpose: To determine the frequency and spectrum of ophthalmologic findings in a large, heterogeneous group of patients with ataxia., Methods: Medical records of 184 patients from a university-based ataxia clinic were retrospectively reviewed. Patients were classified as having Friedreich's ataxia, spinocerebellar degeneration, cerebellar degeneration, familial or sporadic olivo-pontocerebellar atrophy, multisystem atrophy, spastic ataxia, myoclonic ataxia, or other diagnoses such as mitochondrial myopathy. All had complete ophthalmologic examinations, and 107 underwent electro-oculography., Results: Among 184 patients with ataxia, diplopia was present in 52 (28%), best-corrected visual acuity was decreased in 29 (16%), and oscillopsia was present in 10 (5%). Diplopia was usually caused by an intermittent, small-angle heterotropia. The reduction in best-corrected visual acuity varied from mild to profound and was caused by optic atrophy, retinal degeneration, or both. Optic atrophy was present most frequently in spastic ataxia (five of 22 patients) and myoclonic ataxia (two of eight patients), followed by Friedreich's ataxia (three of 26 patients). Retinal degeneration and ophthalmoplegia were most characteristically associated with familial olivopontocerebellar atrophy and mitochondrial myopathy. Laboratory testing of ocular motility showed frequent abnormalities in all groups. Fixation instability was most characteristic of Friedreich's ataxia, whereas saccadic slowing was noticeably absent from patients with purely cerebellar degenerations., Conclusions: The ataxias may be associated with visual dysfunction caused by retinal degeneration, optic atrophy, oculomotor disturbance, or a combination of these.

Background: The prevalence of ocular disease among children in one school district in Los Angeles, California was studied to better understand the types of eye disorders among this population as well as to develop appropriate preventive programs., Methods: A computer-assisted retrospective analysis of date was performed from charts of 2,204 first grade children examined in the UCLA Mobile Eye Clinic., Results: One or more ocular disorders were observed in 22.3 percent of the subjects. Uncorrected best monocular visual acuity was 20/40 or worse in 3.4 percent of the children. Refractive errors were diagnosed in 15.7 percent of the subjects, astigmatism in 7.6 percent, hyperopia in 6.2 percent, and myopia in 6.0 percent. Color vision deficiencies (red-green) were found in 2.6 percent of boys. The prevalences of heterophorias and heterotropias were 1.2 percent and 1.3 percent, respectively., Conclusions: The variety of ocular disorders diagnosed in this demographic setting attests to the importance of performing early and effective screening eye examinations for children.

We studied a mother and daughter with an extremely rare constellation of signs and symptoms. One or both had absent lacrimal puncta, nasolacrimal duct obstruction, chronic dacryocystitis, dry eyes, and epiphora. Systemic findings included salivary gland hyposecretion, dental hypoplasia and dysplasia, cup-shaped ears with hearing loss, and digital anomalies. These findings are consistent with those of the lacrimo-auriculo-dento-digital syndrome, a genetic disorder. Our study supports the autosomal dominant inheritance of this syndrome, delineates the ophthalmic manifestations, and provides evidence that renal anomalies are part of the disorder.

Genetic factors are becoming increasingly important causes of both congenital and acquired eye disease in the pediatric age group. Referral to an ophthalmologist is important both for global genetic disorders potentially affecting the eye and for eye disorders that may be diagnostic for genetic disease.

We report an 11-year-old boy with both the congenital ocular fibrosis and the Prader-Willi syndromes. Since birth he has had bilateral blepharoptosis and fixed ocular misalignment in downward gaze. Pathological examination of the extraocular muscles showed replacement by fibrous tissue. Additionally, the child had the typical clinical features of the Prader-Willi syndrome including mental retardation, hypotonia, short stature, hypogonadism, and obesity. The Prader-Willi syndrome has been consistently associated with interstitial deletions of the long arm of chromosome 15. Although our patient appeared to have normal chromosomes, he may indeed have an undetectable deletion which may be responsible for both syndromes. We believe that the gene(s) for the congenital ocular fibrosis syndrome may be located near the gene(s) for the Prader-Willi syndrome on the long arm of chromosome 15.

The Hagberg-Santavuori syndrome, the infantile form of the lipopigment storage disorders (so-called neuronal ceroid-lipofuscinoses), is a rare autosomal recessive disease characterized by progressive mental and motor deterioration with an onset between 1 and 1 1/2 years of age. Visual impairment is usually evident early in the disease and hypopigmented retinal degeneration has been described. We studied two unrelated patients with the infantile Hagberg-Santavuori form and found stellate posterior polar cataracts and retinal degeneration with hyperpigmented "bone spicules" in both.

Multiple sulfatase deficiency, a newly recognized autosomal recessive disorder caused by a deficiency of several sulfatase enzymes, is characterized by psychomotor retardation, ichthyosis, and mild organomegaly. Patients with metachromatic leukodystrophy, also an autosomal recessive disorder, have a deficiency of a single sulfatase enzyme, arysulfatase A. The ocular features of a patient with multiple sulfatase deficiency and a patient with a new biochemical variant of metachromatic leukodystrophy are described. The patient with multiple sulfatase deficiency had a unique, peripheral lens opacity and a panretinal degeneration. The patient with a new variant of metachromatic leukodystrophy exhibited a cherry-red spot.