Pervasive ocular anomalies in posterior microphthalmos.

BACKGROUND: Posterior microphthalmos is a relatively rare condition that has been reported to coexist with several other ophthalmic conditions. However, to the best of the authors' knowledge, there are no previous reports that have found posterior microphthalmos and refractive, binocular, retinal, and neurologic considerations, along with a possible hereditary component. The following report documents the coexistence of posterior microphthalmos with severe hyperopia, esotropia, macular folds, and optic nerve hypoplasia in a pair of siblings. CASE REPORT: A 9-year-old Hispanic girl presented for a comprehensive eye examination. Best-corrected visual acuity (VA) was reduced in both eyes with poorer VA in the right eye. Binocular testing found a small angle constant right esotropia (ET). On dilated fundus examination, a peculiar, elevated, dolphin-shaped folding of the macula was identified, the right eye greater than the left eye, that extended toward an anomalous optic nerve head in both eyes (OU), presumed to be a disc hypoplasia. The patient's brother, who also exhibited severe hyperopia and ET, presented with a similar acuity reduction, a nearly identical folded macular appearance, the right eye more so than the left eye, and a probable optic nerve hypoplasia. Pachymetry, ultrasonography, and ocular coherence tomography imaging of both siblings found thickened corneas in the presence of posterior microphthalmos OU and macular folds affecting only the retina, leaving the choroid and sclera unaffected. CONCLUSIONS: Posterior microphthalmos may exist in the presence of ocular anomalies along with refractive, binocular, retinal, neurologic, and genetic considerations. In this case, optical coherence tomography provided information on the internal morphology of the macular folds, which helped direct the differential diagnosis. The similar presentation among siblings supports a hereditary component that warrants further investigation.

Ocular manifestations of chromosome 14 terminal deletion.

A boy with chromosome 14 terminal (14q32.3) deletion presented with typical facial dysmorphism, mental retardation, and hypotonia. Ocular examination revealed esotropia, jerk nystagmus, microcornea, and retinal-choroidal colobomas. We report the first case of microcorneas and colobomas in association with chromosome 14 terminal deletion to help further define this clinical syndrome.

Monocular deprivation in an identical twin.

PURPOSE: The scientific literature contains minimal human studies of the effect of monocular deprivation on a single eye of twins. This report examines the effects of early visual deprivation on axial length measurements by comparing the refractive findings and axial length measurements of identical twins' 4 eyes, 1 visually deprived and 3 nondeprived. METHODS: A retrospective record review was performed on the medical records of identical 6-year-old Hispanic female twins. Both patients had received eye care at the University Optometric Center, State University of New York, for a period of at least 5 years. Subsequently, an Internal Review Board-approved prospective study was undertaken. Each twin received a comprehensive eye examination and an A-scan. RESULTS: The findings of the 3 nondeprived eyes were compared with those of the 1 deprived eye. The 3 nondeprived eyes had at least 20/20 visual acuity, low hyperopia or astigmatism, low with the rule keratometric findings, 12-mm corneal diameters, and A-scan results ranging from 21.0 to 21.55 mm. The remaining eye, which was visually deprived secondary to congenital cataract from birth to 6 months of age, had an aphakic refractive condition, decreased visual acuity, glaucoma, esotropia, and borderline microcornea. Keratometric findings were comparable with those of the other 3 eyes, whereas the A-scan finding was 25.16 mm. CONCLUSION: This case presented a unique opportunity to directly examine the effect of visual deprivation on axial elongation. Although other factors, such as glaucoma and borderline microcornea, may influence axial elongation, the findings in this patient indicate that a substantial portion, if not all, of the axial elongation can be attributed to early monocular deprivation.

An analysis of high myopia in a pediatric population less than 10 years of age.

PURPOSE: The purpose of this article is to document a comprehensive clinical profile-including the prevalence of amblyopia, strabismus, and anisometropia-of a pediatric population less than 10 years of age who manifested 6.00 diopters or more of myopia. METHOD: A retrospective record review was performed on all pediatric patients less than 10 years of age, examined at the State University of New York (SUNY) State College of Optometry between 1998 and 2001, and with a spherical equivalent of 6.00 diopters or more of myopia. RESULTS: One hundred seventy-eight patients met the criteria. Amblyopia or reduced corrected visual acuity was present in 75.8% of the patients. Strabismus was present in 31.5% of the patients, with essentially equal numbers of esotropes and exotropes. Anisometropia was present in 35.4% of the patients. One hundred forty-five patients had high myopia in the absence of significant ocular or systemic compromising conditions. In this sample of 145, strabismus or anisometropia was an etiology for amblyopia. There was a greater prevalence of bilateral high myopia (64.8%) than unilateral high myopia. Anisometropia was present in 10.6% of the bilateral high myopes, and 78.4% of the unilateral high myopes. CONCLUSION: Children less than 10 years of age with high myopia have a high risk of having amblyopia, strabismus, and anisometropia.

Maintenance of improvement gains in refractive amblyopia: a comparison of treatment modalities.

BACKGROUND: In June of 1999, an initial study reported on the effect of differing treatment modalities in improving visual acuity and stereoacuity in patients with unilateral refractive amblyopia. This study reports on the patients' visual maintenance of acuity gains for each specified treatment modality. Patients were re-evaluated over a 1- to 2-year period after cessation of treatment. METHODS: Records of patients who participated in the initial study were retrospectively reviewed 1 to 2 years after cessation of therapy to determine whether visual acuity gains were maintained. RESULTS: Patients were divided according to treatment modalities. Results for the three patient groups were as follows: 50% of patients with optical correction alone maintained visual acuity improvement; 60% of patients with optical correction and occlusion maintained visual acuity gains; and 100% of patients with optical correction, occlusion, and vision therapy had maintained visual acuity gains. Of the three age groups--4 years to 6 years, 11 months; 7 years to 9 years, 11 months; and 10 to 14 years--the oldest age group maintained the highest percentage of visual acuity gains. CONCLUSIONS: In our sample, at least 50% of the unilateral anisometropic amblyopic patients, who initially experienced visual acuity gains after treatment (regardless of treatment modality or age) maintained those acuity gains at 1- to 2-year followup. One hundred percent of those patients who received the vision therapy modality of treatment retained the improvement at followup-a statistically significant difference when compared with the other two groups.