Optic disc drusen and primary megalencephaly in children

Three patients with primary megalencephaly were identified among 40 children seen in our clinic with pseudopapilledema due to optic disc drusen. These patients were genetically unrelated and did not have cutaneous hemangiomas, distinguishing their condition from the Riley-Smith syndrome. Although the nature of the relationship between optic disc drusen and primary megalencephaly is not clear, we feel that the two conditions have more than a chance association. A clinically important consideration is that the concomitant occurrence of pseudopapilledema due to optic disc drusen and a large head due to primary megalencephaly may lead to an erroneous diagnosis of increased intracranial pressure in children.     

Asymmetry in optic disc morphometry as measured by confocal scanning laser ophthalmoscopy in subjects with hyperopic anisometropia

PURPOSE: To determine whether there is an asymmetry in optic nerve head morphometry in subjects with hyperopic anisometropia. METHODS: Seventeen men and 20 women with a mean age of 31.43 +/- 2.73 (standard error of mean) years underwent a complete eye examination and optic nerve head topography with the Heidelberg Retina Tomograph II (Heidelberg Engineering, GmBH, Heidelberg, Germany). Differences in optic nerve head parameters between anisometropic eyes and fellow eyes were evaluated using the paired-sample t test or Wilcoxon signed rank test and the correlations between refraction, visual acuity, and disc parameters were evaluated with Spearman's correlation coefficient. RESULTS: The median refractive errors of hyperopic anisometropic and fellow eyes were +4 D (range: +2.0 to +7.50 D) and 0 D (range: 0 to +4 D), respectively. The mean best-corrected visual acuity of the amblyopic eyes was 0.43 +/- 0.25. The mean disc area of the anisometropic eyes (1.69 +/- 0.35 mm2) was significantly smaller than the fellow eyes (2.01 +/- 0.42 mm2) (P < .001). The differences between eyes in mean cup area, rim area, rim volume, and cup shape were statistically significant (P < .05). In aniosmetropic eyes, refractive error (r = -0.406; P = .013) and visual acuity (r = 0.347; P = .035) showed significant correlations with rim area. CONCLUSION: Hyperopic anisometropia is associated with a remarkable interocular difference in optic disc size and other topographic parameters.     

Optic neuritis in children

PURPOSE: To describe the clinical characteristics of optic neuritis in children, including final visual acuity and development of multiple sclerosis (MS). METHODS: Charts were reviewed of all patients < 15 years of age who presented with optic neuritis to the Bascom Palmer Eye Institute or the Miami Children's Hospital between 1986 and 1998. RESULTS: Fifteen patients were identified. There was a slight female predilection in the study group (60%), with a mean age of 9.8 years at presentation. A preceding febrile illness within 2 weeks of visual symptoms was reported in 66% of patients. Initial visual acuity ranged from 20/15 to no light perception. Involvement was bilateral in 66% of patients, and disc swelling was present in 64% of involved eyes. Of the patients who underwent magnetic resonance imaging, 33% had focal demyelinating lesions in the brain, and 63% of affected nerves were enlarged or enhanced with gadolinium. Eleven patients were treated with intravenous steroids. Final visual acuity was > or = 20/40 in 58.3% of eyes. Thirty percent of the patients had vision of finger counting or worse. Four (26%) patients developed MS. The mean age of patients with MS was 12 years, compared with 9 years in children who did not develop MS. Patients with unilateral involvement had an excellent visual prognosis (100% > 20/40), but a higher rate of development of MS (75%). Two patients had positive serology for Lyme disease. CONCLUSIONS: Optic neuritis presents differently in children than in adults. Children typically have bilateral involvement with papillitis following an antecedent viral illness. Although visual prognosis is poorer in children than adults, the development of MS is less common in children. Children who present with unilateral involvement have a better visual prognosis; however, they also develop MS at a greater frequency than children with bilateral involvement. Patients who developed MS were, on average, older at presentation with optic neuritis than those who did not develop MS.     

Optic neuritis in Asian children

PURPOSE: To study the clinical spectrum of pediatric optic neuritis in Korean children. METHODS: A retrospective analysis was performed on 23 patients with onset of the disease before the age of 16 years from 1995 to 2000. The degree of initial visual loss, subsequent visual recovery, magnetic resonance images, and associated diseases was reviewed. RESULTS: There was no female predilection in the study group (43%) with a mean age of 8.9 years at presentation. Involvement was bilateral in 87% of patients. A preceding febrile illness within 2 weeks of visual symptoms was reported in 39% of patients. Of the 43 involved eyes of 23 patients, disc swelling was present in 51%, and central/cecocentral scotoma in 58% of the involved eyes. With a mean follow-up of 14 months, 79% of the patients had final vision of > or =20/40. Twenty-four (96%) of 25 eyes with intravenous steroid treatment and 10 (56%) of 18 eyes without intravenous steroids showed final visual acuity > or =20/40. Only 1 patient (4%) with multifocal signal abnormalities around the periventricular white matter developed multiple sclerosis. CONCLUSION: Korean children with optic neuritis showed bilateral involvement with papillitis. The visual prognosis was relatively good and especially better in the patients receiving intravenous steroid treatment than in those without any treatment; however, this study is not controlled. Although a longer follow-up period is required, the development of multiple sclerosis is rare in Korean children with optic neuritis.     

The disc-macula distance to disc diameter ratio: a new test for confirming optic nerve hypoplasia in young children

The disc-macula: disc diameter (DM:DD) ratio is the ratio of the horizontal distance between the center of the optic disc and the macula to the mean diameter of the optic disc, as evaluated from fundus photographs. The diagnosis of optic nerve hypoplasia may be difficult in cases in which the optic discs are slightly reduced in size, or when the double ring sign is absent and the condition is bilateral. The DM:DD ratio was calculated for six eyes of five children with ophthalmoscopically obvious optic nerve hypoplasia, 12 eyes of six children in whom the diagnosis of optic nerve hypoplasia was equivocal (but established by visual field examination and retinal red free photography), 13 eyes of eight children with optic atrophy, and 25 eyes of 17 children with normal optic discs. The DM:DD ratio was found to be significantly higher for both groups with optic nerve hypoplasia than for those with optic atrophy and the normal controls. For practical purposes, when the DM:DD ratio is greater than 3.0, the diagnosis of optic nerve hypoplasia should be seriously considered.     

Posterior continuous curvilinear capsulorhexis with and without optic capture of the posterior chamber intraocular lens in the absence of vitrectomy

PURPOSE: To evaluate the efficacy of posterior continuous curvilinear capsulorhexis (PCCC) with optic capture of the posterior chamber intraocular lens (PC IOL) in the absence of vitrectomy in preventing secondary opacification of the visual axis following pediatric cataract surgery. PATIENTS AND METHODS: Thirty-four eyes of 28 children with congenital or developmental cataract, aged 1.5 to 12 years (mean, 6.39 years), were included in this prospective, randomized study. Anterior continuous curvilinear capsulorhexis (ACCC) with PCCC without optic capture of the PC IOL was performed in group A (18 eyes) and ACCC with PCCC with optic capture of the PC IOL was performed in group B (16 eyes). None of the eyes underwent anterior vitrectomy. Secondary opacification of the visual axis, visual acuity, and possible complications were observed and analyzed. RESULTS: The follow-up period ranged from 8 to 28 months (mean, 17.5 months). All 16 eyes (100%) in group B had a clear visual axis at the end of follow-up. Eight eyes (44.4%) in group A had significant opacification of the visual axis. The difference between the two groups was statistically significant (P = .0011). No eye in group B required secondary intervention, whereas all 8 eyes in group A with significant secondary opacification required secondary intervention. There was no statistically significant difference in other complications such as anterior chamber reaction, fibrin formation, lenticular precipitates, and posterior synechiae. The final best-corrected visual acuity at the end of follow-up was comparable in the two groups (P > .05). CONCLUSION: PCCC with optic capture of the PC IOL prevents secondary opacification of the visual axis even in the absence of vitrectomy.     

Management of acute visual loss in children.]

Acute or rapidly progressive visual loss in children needs urgent attention and treatment. It may be unilateral orbilateral. Etiology depends upon the involved areas: eye ball, optic nerve, retro-chiasmatic pathways. Psychogenic origin is quite common in school-age children, however, it has to be considered last. Unilateral visual loss may be overlooked. Acute total transitory visual loss may be due to epilepsy or to migraine. Rapidly progressive visual loss may be due to retinal disease, optic neuritis or cortical blindness. Management of visual loss depends on clinical features, associated symptoms, and aspect of the optic disc. It needs collaboration between ophthalmologist,pediatrician and neuropediatrician. Retinal hemorrhages first call to mind a traumatic origin. Swelling of the optic disc may be due to increased intracranial pressure or due to optic neuritis. When the optic disc is normal it is necessary to rule out organic diseases before establishing the diagnosis of a psychogenic vision disturbance. In emergency, brain neuroimaging is the best way to diagnose intracranial mass and visualize optic pathways.     

Ocular and systemic findings associated with optic disc colobomas

PURPOSE: To determine the ocular and systemic anomalies associated with optic disc colobomas. PATIENTS AND METHODS: The records of patients with a diagnosis of isolated optic disc coloboma and chorioretinal coloboma with optic disc involvement were retrospectively reviewed. RESULTS: Fifteen patients were included in the study. Of the 30 eyes, the optic disc and choroid were involved in 18, an isolated disc coloboma was present in 5, a normal optic disc was present in 4, and the optic disc could not be identified because of extreme microphthalmia in 1. Of the optic discs outside the fundus colobomas, 1 had an abnormal shape and 1 had optic atrophy and hypoplasia. Eight patients had bilateral but asymmetric involvement of the optic nerve with the coloboma. Fourteen eyes of 9 patients were microphthalmic. Nine eyes of 6 patients had microcornea. One patient had a nonrhegmatogenous retinal detachment at the time of diagnosis. One eye had a retrobulbar cyst with microphthalmia. Eight (53%) of the patients had sensory strabismus. Two patients had unilateral cortical lens opacities. Associated systemic findings were present in 6 (40%) of the 15 patients. CONCLUSIONS: Optic disc colobomas have a wide variety of presentations. Poor visual acuity was observed mostly in eyes with macular involvement and microphthalmia.     

The optic disc in Leber congenital amaurosis.

The typical fundus appearance in Leber congenital amaurosis (LCA) in infancy is normal. Later in childhood, clinical heterogeneity develops and a variety of fundal abnormalities may be seen. These commonly include optic atrophy, retinal arteriolar attenuation, and a variety of pigmentary changes. We retrospectively reviewed the optic disc findings of 77 patients with LCA whom we had examined to confirm our clinical impression that the optic discs are frequently normal. Age at examination ranged from infancy to the fourth decade. The optic discs were normal in 53 (69%) of the 77 patients examined; 18 (23%) had varying degrees of optic atrophy; 2 (3%), pseudopapilledema; and 1 (1%), grey discs. The optic discs could not be seen in 3 (4%) patients. We conclude that the optic discs are frequently normal in appearance, even in older patients with LCA.     

Comparison of the HOTV and Lea symbols visual acuity tests in patients with amblyopia

PURPOSE: To determine whether the Lea symbols visual acuity test, compared with the HOTV visual acuity test, overestimates visual acuity in patients with amblyopia. PATIENTS AND METHODS: Fifty-nine patients with amblyopia or a history of amblyopia treatment had visual acuity measurements in both eyes with the HOTV and Lea symbols tests. Crowding bars, separated by a width of 1 optotype, and the original pilot-testing protocol in the Amblyopia Treatment Study were used to quantify visual acuity. RESULTS: The patients' ages ranged from 4 to 35 years (mean age, 10.1 years). Visual acuity in the amblyopic eyes ranged from 20/20 to 20/250. The mean visual acuity difference (HOTV scores vs Lea symbols scores) was -0.056 logMAR units (P < .001), slightly more than half of a line. The negative value indicates that patients performed better on the HOTV test. In nonamblyopic eyes, the mean difference was -0.05 logMAR units (P < .001). Patients with strabismic amblyopia had a mean difference of -0.05 logMAR units (P = .08); those with anisometropic amblyopia had a mean difference of -0.07 logMAR units (P = .002). Patients 8 years and younger had a mean difference of -0.04 logMAR units (P = .05); those older than 8 years had a mean difference of -0.06 logMAR units (P = .002). CONCLUSIONS: In both amblyopic and nonamblyopic eyes, visual acuity measurements were better on HOTV testing compared with Lea symbols testing. The differences persisted regardless of patient age and the cause and severity of amblyopia. Overestimation of visual acuity by the Lea symbols test was not found.     

False diagnosis of papilloedema and idiopathic intracranial hypertension.

The diagnosis of idiopathic intracranial hypertension (IIH) relies heavily on the appearance of the optic disc. We report eighteen children referred to us over a 3 year period with disc swelling and suspected IIH. Following a tertiary ophthalmological review, papilloedema was excluded in ten with buried drusen, disc crowding, pseudopapilloedema, or misinterpretation of normal appearances. In these ten children, five had a mean opening pressure on lumbar puncture of 27.2 cm H2O, range 19-32, which was significantly lower than those with IIH (37.5 cm H2O, range 29-47; p<0.01). We conclude that diagnosis of IIH is difficult, and that more precisely defined criteria for assessment and diagnosis are needed.     

Calcifying discopathy in infancy in the cervical spine: evaluation of vertebral alterations over a period of time

Calcifying discopathy in infancy involving in the cervical spine has already been observed and described by many authors, as a well-defined clinico-radiological syndrome with a benign course. The clinical picture is composed of: pain and functional limitation, sometimes with a stiff neck, more rarely slight fever, increase of the erythrocyte sedimentation rate or leukocytosis. The radiographic picture consists of the association of morphological and structural alterations of vertebral bodies adjacent to one or more disc calcifications usually centrally sited, sometimes associated with anterior or posterior herniations. On the basis of the observation of 7 patients of up to 15 years of age, the authors propose to evaluate the changes of both the vertebral bodies and the discs involved in the disease over a period of time. The repetition of even modest alterations, that persist in time, testify to the involvement of the vertebral growth perhaps, more than the discal alterations connected with the calcification.     

Cerebral CT scan alterations in children with ocular lesions caused by congenital toxoplasmosis

OBJECTIVE: To evaluate the frequency and the types of cerebral CT scan alterations in patients with ocular lesions caused by congenital toxoplasmosis. METHODS: The patients should fit one of the following criteria: reagent IgM serology for toxoplasmosis at birth and mother with positive serology for toxoplasmosis; age less than ten years, with bilateral funduscopic lesions compatible with toxoplasmic retinochoroiditis; or reagent IgG serology for toxoplasmosis and mother with positive serology for toxoplasmosis. All patients were submitted to noncontrast cerebral CT scan. RESULTS: Twenty-two patients participated in this study (44 eyes). Thirteen eyes presented macular lesions (29.5%), eight had peripheral lesions (18.2%) and 22 eyes had concomitant macular and peripheral lesions (50%). Seventeen patients presented radiological alterations (77.3%). Among these, sixteen patients (94.1%) presented brain calcifications, two patients (11.7%) presented ventricular dilation, two patients (11.7%) had hydrocephalus, one had hydranencephaly (5.9%), one presented porencephalic cyst (cerebral hemiatrophy) (5.9%), one had arachnoid cyst (5.9%) and one had mild dilation of ventricles and subarachnoid cistern (5.9%). CONCLUSIONS: Patients diagnosed with congenital toxoplasmosis and ocular lesions should be investigated for concomitant neuroradiologic alterations.     

Outcome of hyperplastic persistent pupillary membrane

PURPOSE: To evaluate the long-term visual outcome of eyes with hyperplastic persistent pupillary membrane. PATIENTS AND METHODS: We adopted a retrospective approach involving 39 eyes of 24 Korean patients diagnosed as having hyperplastic persistent pupillary membrane, excluding patients who could not be observed beyond 3 years of age and eyes that had any other ocular anomalies that affect vision. Final best-corrected visual acuity and refractive status were compared according to treatment type and laterality. Mean visual acuity was transformed to the logarithm of the minimum angle of resolution (logMAR). RESULTS: The mean final best-corrected visual acuity was 0.32 (standard deviation, +/- 0.41). Five eyes had a best-corrected visual acuity less than 20/70 at the last follow-up. Four eyes were unilateral (deprivation amblyopia) and one eye was bilateral (anisometropic amblyopia). There were no significant differences in final best-corrected visual acuity according to treatment type or laterality. Significant anisometropia was found in 11 of the 24 patients. The mean absolute value of anisometropia was greater in the surgical treatment group than in the medical treatment and observation groups (P = .048). CONCLUSIONS: The visual prognoses for individuals with hyperplastic persistent pupillary membrane can be relatively good if the condition is appropriately managed. Unilaterality and poor initial visual acuity are indicators of a poor visual outcome. Surgery is effective when the opaque membrane retards visual maturation. Close follow-up with evaluation of visual acuity and refractive status is mandatory because this condition can lead to deprivation amblyopia and anisometropic amblyopia.     

Optic gliomas in children with neurofibromatosis type 1

Over a 24-year period, optic gliomas were found in 29 children, 16 of whom had neurofibromatosis type 1 (NF-1). These 16 children comprised 21% of all children referred for management of NF-1 and its complications. The finding of optic glioma led to the diagnosis of NF-1 in 4 children. The mean age at diagnosis of optic glioma in NF-1 children was 6.4 years, and the average estimated duration of visual symptoms prior to diagnosis was 2.1 years. Most optic gliomas in NF-1 children were ascertained because of a visual complaint (69%), and an even greater number of children (88%) had an abnormal ophthalmological examination. The optic chiasm was involved in 75% of the patients. All of the seven children with optic glioma examined by visual evoked potential had an abnormal response ipsilateral to the tumour. The majority of the children received radiation therapy. After a mean follow up period of 5.8 years no deaths had occurred due to optic glioma, but in 35% of the children vision was worse. We conclude that optic glioma is a common, serious complication in NF-1 children. Routine care of such patients should include regular noninvasive investigations aimed at detecting lesions of the optic pathway.The results were presented in part at the meeting of the Society for Pediatric Research, Washington, D. C., May 1989     

Idiopathic intracranial hypertension: clinical features and outcome

Idiopathic intracranial hypertension in children is rare. We analyzed clinical presentation and outcome in eight patients (six girls and two boys) diagnosed with idiopathic intracranial hypertension. The mean age was 11.1 years. The most common clinical features were headache, papilledema and visual disturbance (visual loss and diplopia). Response to treatment was satisfactory in all patients except one who presented almost complete bilateral amaurosis requiring extracranial shunting and who later developed optic atrophy. Outcome is usually is benign, but given the possibility of severe loss of visual function, close ophthalmic follow-up is recommended until complete resolution.     

Long-term results of lensectomy in children with ectopia lentis

PURPOSE: To report the clinical features and long-term visual results in children with ectopia lentis after lensectomy. METHODS: A retrospective analysis was performed with the records of 78 eyes of 42 patients operated on and observed for at least 3 years. RESULTS: Mean age at diagnosis was 4.6 years, mean age at surgery was 5.7 years, and follow-up period was an average of 7.1 years. Of 42 patients exhibiting bilateral ectopia lentis, 6 received monocular surgery. Mean age at diagnosis was significantly higher and mean postoperative best-corrected visual acuity was significantly lower in the monocular surgery group than in the binocular surgery group (P < .05). All eyes exhibited reduced hyperopia for 5 years postoperatively, but the reduction rate of hyperopia in the monocular group was significantly lower than inthe binocular group (P < .05). No complications occurred during operations and 1 eye (1.3%) in a patient with Marfan's syndrome exhibited retinal detachment 9 years after surgery. CONCLUSIONS: Surgical treatment of ectopia lentis was safe and promising with regard to good visual outcomes after 7.1 years of follow-up. However, the possibility of amblyopia must be considered due to differences in the degree of dislocation between the two eyes.     

Assessment of vision and amblyopia by preferential looking tests after early surgery for unilateral congenital cataracts

Preferential looking tests obtained over the first 3 years were used to evaluate the development of visual acuity of 21 patients who underwent surgery for unilateral congenital cataracts and fitting of contact lenses before age 6 months. Mean acuity of the aphakic eyes improved rapidly in the first year; however, between the end of the first year and the end of the third year there was no improvement in mean aphakic acuity. Consistent with this, the percentage of patients who were amblyopic by the criterion interocular difference in acuity (IOD) of 0.5 octaves (oct) or greater was 94% at the first test age near the onset of occlusion therapy, decreased to 72% at the end of year 1, and increased to 89% by the end of year 3. Variations in occlusion therapy appear to account for these results: mean hours of occlusion per day were 6.2 in year 1, 4.4 in year 2, and 2.7 hours in year 3. Furthermore, the IOD at age 1 year was negatively correlated with hours of occlusion in the first year and the IOD at age 3 years was negatively correlated with cumulated hours of occlusion over all 3 years. That is, the less the amount of occlusion therapy, the greater the IOD. The patients' ages at time of surgery did not account for any further variance in these results than that accounted for by occlusion therapy. This study demonstrates that PL acuity measurement can aid in monitoring the response to occlusion therapy of infants with deprivation amblyopia due to unilateral congenital cataracts.     

Optic gliomas in children with neurofibromatosis type 1

To determine the frequency and natural history of tumors of the optic nerves and chiasm in patients with neurofibromatosis type 1, we obtained computed tomographic scans of 65 children who had no known visual or ocular abnormalities before their initial evaluation. Optic gliomas were detected in 10 children (15%). The median age of children with gliomas was 4.3 years (mean 5.8 years, range 9 months to 21 years). Three children (30%) had isolated, unilateral tumors, three (30%) had bilateral tumors, and four (40%) had involvement of the optic chiasm and of one or both nerves. Definite abnormalities of vision were found in only two children (20%). Five additional children were referred to the clinic after evaluation of ophthalmologic complaints led to the diagnosis of neurofibromatosis type 1: three had unilateral exophthalmos and two had plexiform neurofibromas of the eyelid with associated glaucoma. Ipsilateral optic gliomas were found in all five children; one child also had a contralateral tumor. Optic gliomas are commonly identified in young children with neurofibromatosis type 1 who have no ocular or visual abnormalities. Optic nerve gliomas may be associated with plexiform neurofibromas of the eyelid and glaucoma.     

Calcifications discales de l’enfant : à propos de deux observations et revue de la littérature

Discal calcification in childhood is rare. Calcifications are occasionally discovered during routine examinations. Generally, the calcification process is confined to the nucleus pulposus of the intervertebral disc. CASES REPORT: We describe the cases of two children, five and seven years old who presented with acute low back pain. The patients underwent a CT scan, which demonstrated a posterolateral calcified disc hernia. DISCUSSION: Only a few cases with evidence of calcification of the herniated portion of the disc have been previously described. The clinical picture is composed of pain and functional limitation. The radiographic picture consists of the association of morphological and structural alterations of vertebral bodies adjacent to one or more disc calcifications usually centrally sited, sometimes associated with anterior or posterior herniations. The surgical decompression of the nerve root could be necessary.