The long-term visual effects of short-term binocular occlusion of at-risk neonates.

A retrospective study of fifty 5-year-old children whose eyes were patched bilaterally to treat neonatal jaundice was compared with a study of a similar group of fifty 5-year-old children who were treated in the intensive care nursery but whose eyes were not patched. No difference in the incidence of strabismus or loss of stereoacuity was established in these two groups. Despite the experimental evidence documenting changes in the visual cortex and interocular alignment in animals binocularly deprived of visual stimulation near birth, the clinical practice of binocularly patching the eyes of neonates with jaundice does not seem to increase the incidence of subsequent strabismus or loss of stereoacuity.

Optic nerve hypoplasia in children. Association with anomalies of the endocrine and CNS.

Optic nerve hypoplasia is frequently associated with congenital CNS anomalies and endocrine disturbances. In a prospective study of 93 children with this condition, we found that 78% of those with bilateral involvement, poor vision, and nystagmus (group 1) had additional nonocular developmental abnormalities. In contrast, among children with unilateral optic nerve hypoplasia (group 2) or with bilateral segmental hypoplasia and good vision (group 3), only 21% had nonocular developmental disturbances. Delayed development in 23 children was the most frequent nonvisual problem associated with optic nerve hypoplasia, and in five cases it occurred in the absence of detectable CNS, endocrine, or medical abnormalities. Nine patients had decreased levels of thyroid hormone; three, decreased levels of growth hormone; and three, decreased levels of both. Five had histories of neonatal hypoglycemia. Of the children with endocrine disturbances, ten had delayed development, but only seven had anomalies on computed tomographic scan.

Aphakic cystoid macular edema: occurrence in infants and children after transpupillary lensectomy and anterior vitrectomy.

Twenty-seven children and infants underwent surgery for bilateral infantile cataracts. In each infant, the lens in one eye was removed by discission and aspiration, and the other lens was removed by lensectomy and anterior vitrectomy. Ten of 27 eyes undergoing lensectomy and vitrectomy developed aphakic cystoid macular edema; in only one eye that underwent discission and aspiration did macular edema develop. Six of the eyes of the first group developed persistent cystoid macular edema, of which four seem to be visually important. Further long-term studies of the prevalence and functional importance of cystoid macular edema after lensectomy and anterior vitrectomy in children are needed. We do not presently advocate this technique except in the treatment of complicated infantile cataracts.

Leber's congenital amaurosis. Is mental retardation a frequent associated defect?

Thirty-one patients had Leber's congenital amaurosis. Only one was severely retarded, and three demonstrated hypoplasia of the cerebellar vermis on computed tomographic scanning. These findings are in contrast to those of previous investigators, who have emphasized the high incidence of psychomotor retardation associated with Leber's amaurosis. Much of the psychomotor retardation that has been reported is probably secondary to the sensory deprivation and not necessarily a sign of structural CNS dysfunction. The diagnosis of Leber's congenital amaurosis does not, therefore, portend severe intellectual impairment and poor educability.

Acute comitant esotropia in children with brain tumors.

If acute onset of esotropia is comitant, its cause is generally believed to be benign. Although this is, by and large, true, it is now clear that acute comitant esotropia may be associated infrequently with central nervous system illness. We describe six children who presented with acute onset of comitant esotropia, and who were found to have tumors of the brain stem or cerebellum. Four of the patients underwent strabismus surgery after appropriate neurologic and neurosurgical treatment was completed. In none of these patients was ocular motor fusion reestablished.

Oculomotor consequences of intraventricular hemorrhages in premature infants.

We report the ocular findings in 11 preterm infants who sustained intraventricular hemorrhages. The defects were similar to those in adults who suffer from hypertensive thalamic hemorrhages. All 11 infants showed tonic downward and esotropic deviations of their eyes. Upgaze response could not be elicited in any of the infants. Although the role of secondary hydrocephalus cannot be discounted, we conclude that the direct effect of the hemorrhage on thalamic and mesencephalic structures is essential in the production of these oculomotor deficits. The prognosis for recovery of the upgaze palsy in these patients is good, although the time course may vary. However, the large-angle esotropia usually persists and requires surgical correction.

Amblyopia and congenital esotropia. Visually evoked potential measurements.

Amblyopia in patients with congenital esotropia was studied using visually evoked cortical potentials. In only four of 31 patients with esotropia and no abducting nystagmus was amblyopia detected before surgery. Postoperatively, 19 of these patients had amblyopia. In contrast, nine of the 11 patients with esotropia and nystagmus exhibited amblyopia before surgery. We conclude that amblyopia occurs infrequently in patients with congenital esotropia and no nystagmus until surgery reduces the angle of deviation and breaks down the cross-fixation reflex.

Effect of natural deprivation and unilateral eye patching on visual acuity of infants and children. Evoked potential measurements.

Evoked potential measurements of visual acuity were made on four children aged from 5 months to 8 years. They were deprived of normal visual stimulation by various disorders: unilateral aphakia from a congenital cataract, vitreous hemorrhage, polar cataract, and esotropia. In the two younger children, aged 5 and 15 months, respectively, the visual acuity improved when the eye had good optical imagery and declined with poor or no imagery. Reversal of the imagery to the contralateral eyes again brought large changes in opposite directions. In the two older children, aged 4 and 8 years, respectively, there were marked decreases in acuity in the patched eye, but little or no change in the unpatched eye. It is not know whether these differences are due to age or to the original kind of visual disorder, such as deprivation, occlusion, or strabismus, or are merely individual differences. It is clear, however, that some children exhibit large changes in acuity in response to visual deprivation or patching, or to its removal, in a readily reversible manner. Also, we have demonstrated that visually evoked potential acuities may be obtained from pediatric, clinical patients without regard to age, which may be useful in management of the conditions.

Stimulus deprivation amblyopia in children. Sensitivity, plasticity, and elasticity (SPE).

In the SPE model we propose, sensitivity (S) to deprivation results in changes that may be either plastic (P) (permanent) or elastic (E) (temporary). The effects of various levels (hours per day) of monocular occlusion in amblyopic children are measured as the change in visual acuity in each eye. At the patching level extremes (12 or more hours per day, zero hours per day) the effects on visual acuity in the two eyes are reciprocal, but nearly equal (symmetrical). At intermediate levels of occlusion, the asymmetries in effects necessary for successful occlusion can be demonstrated. Additional measurements of SPE parameters in children may allow for the determination of occlusion dose response whereby the risks of occlusion amblyopia and interference with binocularity may be avoided.

Tonic upgaze in infancy. A report of three cases.

Episodic conjugate tonic upgaze unassociated with seizures or downgaze palsy was noted in three infants during the first months of life. With age, the episodes became shorter and less frequent and were most notable during periods of fatigue or illness. This phenomenon may be analogous to transient tonic downward deviation of the eyes in healthy infants.

Ocular features of Aicardi's syndrome.

Four cases of Aicardi's syndrome are reported. The constant features of this syndrome are infantile spasms, chorioretinopathy, and agenesis of the corpus callosum. The chorioretinopathy appears to be a defect of the pigment epithelium and choroid without significant retinal involvement. Additional ocular features include microphthalmia, colobomas of the optic nerve and choroid, persistent pupillary membrane, and glial tissue extending from the disc. The cause of the syndrome is uncertain. It occurs only in females and is nonfamilial. A male lethal syndrome resulting from a gene on the X chromosome occurring as a spontaneous mutation has been suggested. The possible role of intrauterine infection needs further investigation.

Optic nerve sheath and retinal hemorrhages associated with the shaken baby syndrome.

A 13-month-old child with the pathognomonic findings of the shaken baby syndrome died secondary to cerebellar herniation. Pathologic examination disclosed extensive intraocular, optic nerve sheath, and intracranial hemorrhages, despite a paucity of external signs of trauma. Many of the hemorrhages were old, suggesting that the child had experienced multiple episodes of trauma. Hemorrhages of the optic nerve sheaths have not been previously reported with the shaken baby syndrome but probably accompany this condition frequently. Our patient's ocular hemorrhages may have resulted from a sudden rise in intracranial pressure.

Sudden death in septo-optic dysplasia. Report of 5 cases.

OBJECTIVES: To report our experience with sudden death in children with septo-optic dysplasia and to identify specific risk factors and suggest preventive measures to minimize mortality. METHODS: Clinical data from 5 children with septo-optic dysplasia who died suddenly and unexpectedly were evaluated retrospectively. RESULTS: All children had corticotropin deficiency, all had thermoregulatory disturbances, and 4 children had diabetes insipidus. In at least 4 children, clinical deterioration was caused by fever and dehydration from a presumed viral illness, which appeared to precipitate adrenal crisis. CONCLUSIONS: Children with septo-optic dysplasia and hypocortisolism are at risk for sudden death during febrile illness. Thermoregulatory disturbances and dehydration from diabetes insipidus may potentiate clinical deterioration. Prevention of sudden death in septo-optic dysplasia requires early recognition and treatment of these major risk factors.

Visual recovery from hypoxic cortical blindness during childhood. Computed tomographic and magnetic resonance imaging predictors.

We reviewed the clinical courses and computed tomographic (CT) and magnetic resonance imaging (MRI) scans of 30 infants and children with cortical blindness following hypoxic insults. The degree of injury to the striate and parastriate cortices and the area of the optic radiations were graded from 0 to 4 by a neuroradiologist. Only two children had normal scans of the posterior visual pathway and both had favorable visual outcomes. The visual recovery differed significantly with respect to the age at which the hypoxic insult occurred and CT and MRI abnormalities in the area of the optic radiations, but not with abnormalities in the striate or parastriate cortices. Our results suggest that CT and MRI scanning are helpful in prognosticating the visual potential of children with hypoxic cortical blindness.

Atypical retinochoroidal coloboma in patients with dysplastic optic discs and transsphenoidal encephalocele.

OBJECTIVE: To evaluate the clinical significance of V- or tongue-shaped infrapapillary retinochoroidal depigmentation in association with dysplastic optic discs. METHODS: Clinical data from all patients with V- or tongue-shaped infrapapillary retinochoroidal depigmentation and dysplastic optic discs were evaluated retrospectively. RESULTS: Five patients with this atypical colobomatous anomaly had transsphenoidal encephalocele. A sixth patient had an ectopic midline pharyngeal mass with no skull-base defect. CONCLUSION: In patients with optic disc dysplasias, the finding of this V- or tongue-shaped retinochoroidal pigmentary anomaly should prompt neuroimaging to look for transsphenoidal encephalocele.

Mutation analysis of 3 genes in patients with Leber congenital amaurosis.

OBJECTIVE: To assess the frequency of mutations in the CRX, GUCY2D, and RPE65 genes in patients with Leber congenital amaurosis (LCA). PATIENTS: One hundred seventy-six probands with a clinical diagnosis of LCA were from 9 countries, with the largest subgroup being 39 probands from India. METHODS: Samples were screened with single-strand conformation polymorphism analysis followed by DNA sequencing of 3 genes (CRX, GUCY2D, and RPE65) known to be associated with LCA. RESULTS: Of the 176 probands, 28 (15.9%) harbored possible disease-causing mutations. The relative contribution of each gene to the total number of mutations was as follows: CRX, 2.8%; GUCY2D, 6.3%; and RPE65, 6.8%. No patients who harbored mutations in these genes had associated systemic abnormalities. Molecular diagnosis allowed definitive genetic counseling in a family affected with Best disease and LCA. CONCLUSIONS: Molecular diagnosis may be of benefit to patients affected with LCA. The relative paucity of mutations found in this study suggests that more LCA-associated genes remain to be discovered. CLINICAL RELEVANCE: Molecular diagnosis can confirm and clarify the diagnosis of LCA. As genotype data accumulate, clinical phenotypes associated with specific mutations will be established. This will facilitate the counseling of patients on their visual prognosis and the likelihood of associated systemic anomalies.

Spontaneous regression of optic gliomas: thirteen cases documented by serial neuroimaging.

OBJECTIVE: To demonstrate spontaneous regression of large, clinically symptomatic optic pathway gliomas in patients with and without neurofibromatosis type 1 (NF-1). METHODS: Patient cases were collected through surveys at 2 consecutive annual meetings of the North American Neuro-Ophthalmology Society (NANOS) and through requests on the NANOSNET Internet listserv. Serial documentation of tumor signal and size, using magnetic resonance imaging in 11 patients and computed tomography in 2 patients, was used to evaluate clinically symptomatic optic pathway gliomas. All tumors met radiologic criteria for the diagnosis of glioma and 4 patients had biopsy confirmation of their tumors. In 3 patients, some attempt at therapy had been made many years before regression occurred. In one of these, radiation treatment had been given 19 years before tumor regression, while in another, chemotherapy had been administered 5 years before signal changes in the tumor. In the third patient, minimal surgical debulking was performed 1 year before the tumor began to shrink. RESULTS: Spontaneous tumor shrinkage was noted in 12 patients. Eight patients did not have NF-1. In an additional patient without NF-1, a signal change within the tumor without associated shrinkage was detected. Tumor regression was associated with improvement in visual function in 10 of 13 patients, stability of function in 1, and deterioration in 2. CONCLUSIONS: Large, clinically symptomatic optic gliomas may undergo spontaneous regression. Regression was seen in patients with and without NF-1. Regression may manifest either as an overall shrinkage in tumor size, or as a signal change on magnetic resonance imaging. A variable degree of improvement in visual function may accompany regression. The possibility of spontaneous regression of an optic glioma should be considered in the planning of treatment of patients with these tumors.

Vitamin metabolism and therapy in ophthalmology.

Vitamin deficiency states are important in the genesis of many ocular disorders. Deficiencies may be due to poor dietary intake, or to alterations in metabolism produced by some commonly prescribed medications or by certain diseases. Furthermore, some vitamins may exert important pharmacologic effects on the normal eye. The ocular effects of deficiencies and excesses of specific vitamins, and the therapeutic uses of each vitamin, are reviewed.

Ophthalmological examination of the infant. Developmental aspects.

In recent years, the ophthalmic examination of infants has been of increasing interest to both clinicians and vision researchers. Clinicians have documented a greater risk of retinopathy, strabismus and amblyopia in premature infants, especially those of low birthweight. In addition to the external and retinal examination of the infant eye, a number of clinical tests can help the ophthalmologist to detect visual dysfunction through the evaluation of pupillary responses and ocular motility. Recently, the development of objective techniques (optokinetic nystagmus, forced choice preferential looking, and visually evoked potentials) have not only aided in the detection of ophthalmic disorders in infants; they have contributed to useful definitions of "normal" vision at various ages and to the understanding of factors that influence the pre- and post-gestational development of visual function.

Optic nerve hypoplasia.

Optic nerve hypoplasia is an easily overlooked, nonprogressive developmental anomaly which results in a wide range of visual deficits. It is frequently associated with clinically significant central nervous system and endocrine abnormalities. Maternal substance abuse is increasingly recognized in many cases. A supranormal regression of optic nerve axons in utero, rather than a primary failure of differentiation, is proposed as the pathogenesis.