Peripheral nonperfusion and tractional retinal detachment associated with congenital optic nerve anomalies.

PURPOSE: To report an association of congenital optic nerve anomalies with peripheral retina nonperfusion and to describe the clinical manifestations and treatment. DESIGN: Retrospective, observational case series. PARTICIPANTS: Fifteen patients with congenital optic nerve anomalies referred for pediatric retina consultation were studied. Sixteen eyes of 9 patients with optic nerve hypoplasia and 8 eyes of 6 patients with other congenital optic nerve anomalies, including optic nerve coloboma, morning glory disc, and peripapillary staphyloma, were included. METHODS: All patients underwent examinations under anesthesia. Wide-angle retina photographs and fluorescein angiograms were reviewed. The severity of nonperfusion was graded. The presence of fibrovascular proliferation (FP), vitreous hemorrhage (VH), and tractional retinal detachment (TRD) were documented. Anatomic outcome after treatment was recorded. MAIN OUTCOME MEASURES: Severity of nonperfusion, occurrence of secondary complications, and the anatomic outcome of patients who underwent laser treatment. RESULTS: In patients with optic nerve hypoplasia, 12 of 16 eyes (75%) had severe peripheral nonperfusion, 12 of 16 eyes (75%) had FP, 3 of 16 eyes (19%) had VH, and 10 of 16 eyes (63%) had TRD. Six of these eyes with severe nonperfusion received laser photocoagulation to the nonperfused retina; laser-treated retinas remained attached in all 6 eyes. In patients with the other optic nerve anomalies, 7 of 8 eyes (88%) had mild to moderate nonperfusion, 2 of 8 eyes (25%) had FP, 1 of 8 eyes (12%) had VH, and 2 of 8 eyes (25%) had TRD. Six of 9 patients (67%) with optic nerve hypoplasia and 1 of 6 patients (17%) with other anomalies had a coexisting congenital brain disease. CONCLUSIONS: Congenital optic nerve anomalies may be associated with peripheral retina nonperfusion and the secondary complications of FP, VH, and TRD. In this select group of patients, the nonperfusion associated with optic nerve hypoplasia seemed to be more severe and associated more frequently with secondary complications. Peripheral retina examination in eyes with optic nerve anomalies may identify nonperfusion or FP. Laser treatment of the avascular retina may have helped prevent complications from proliferative retinopathy in eyes clinically observed to have progressed or considered at risk for progression to proliferative retinopathy.

Etiology-based strabismus classification scheme for pediatricians.

BACKGROUND: Pediatricians are regularly involved in the initial examination of children presenting with strabismus, a common ocular condition occurring in 3% of children. The objective of this review was to gain insight into pediatric residents, fellows and attendings` understanding of strabismus, and to propose an etiology-based strabismus classification scheme to aid this understanding. METHODS: A survey was conducted in a single Department of Pediatrics in a university academic institution in order to assess the degree of understanding of the classification, etiology and nomenclature of strabismus. A targeted literature review, pertinent to our classification scheme for strabismus in the pediatric age group, is provided to clarify the various underlying etiological conditions for pediatricians. RESULTS: The surveyed cohort (n=26) consisted of 10 (38.5%) attendings and 16 (61.5%) pediatricians-in-training. Although 69% of survey participants felt comfortable performing an ocular motility evaluation, only 19% had a clear understanding of the underlying etiology of strabismus, 8% had a clear understanding of strabismus nomenclature and none of the participants had clear knowledge of a classification scheme of strabismus. We propose an etiologic-based strabismus classification scheme with streamlined nomenclature geared towards Pediatricians to facilitate the management of pediatric patients with various ocular misalignments. Eight major categories of this classification scheme include (1) physiologic, (2) comitant, (3) paralytic, (4) sensory, (5) syndromic, (6) orbital, (7) supranuclear and (8) pseudostrabismus. CONCLUSIONS: Pediatricians at all levels of professional experience have a limited command of strabismus. An etiology-based classification scheme of strabismus may assist in understanding the underlying causes and facilitate the management of strabismus in the pediatrician`s office.

Ocular features of Townes-Brocks syndrome.

Townes-Brocks syndrome (TBS) is a rare genetic syndrome associated with heterozygous mutations in SALL1 and characterized by abnormalities of the anus, ear, and thumb. Ophthalmic findings have been rarely reported and include congenital cataract, microphthalmia, optic nerve atrophy, coloboma, epibulbar dermoid, and dysinnervation patterns, such as Duane syndrome and gustatory lacrimation. We report a case of genetically confirmed TBS showing a spectrum of ocular anomalous innervations, including bilateral type 1 Duane syndrome and Möbius sequence, left-sided Marcus Gunn jaw winking, left eye gustatory lacrimation, and lack of emotional tearing bilaterally. Magnetic resonance imaging of brain and orbit showed absence of the abducens nerve bilaterally and of the left facial nerve.

Evaluation of the underlying causes of papilledema in children.

OBJECTIVE: The purpose of this retrospective study was to identify the types and relative frequencies of intracranial disorders in pediatric patients who present with papilledema. DESIGN: Retrospective case series. PARTICIPANTS AND METHODS: This study was conducted in 2 pediatric ophthalmology clinics, both providing community-based care in a large inner-city urban center in the U.S. Pediatric patients aged between 0 and 16 years diagnosed with papilledema and who had an underlying etiology identified were included in the study. Patient demographic data, ophthalmologic examination findings, and diagnostic work-up results were identified from clinical records. RESULTS: The mean age of 38 study patients (19 female, 19 male) was 8.6 ± 4.8 years. Of the 38 patients, 16 (42.1%) had idiopathic intracranial hypertension (IIH) as the underlying cause of the papilledema, 7 (18.4%) had a craniosynostosis disorder, 6 (15.8%) had intracranial tumours, 2 (5.3%) had primary hydrocephalus, and 1 (2.6%) patient each had transverse sinus thrombosis related to sinusitis, hypertensive crisis, subdural hematoma, intracranial abscess, Lyme disease, presumed neurosarcoidosis, and acute disseminated encephalomyelitis. Of the 6 intracranial tumours, 2 (33.3%) presented in the sellar/parasellar region, 2 (33.3%) in the posterior fossa, and 2 (33.3%) were in cortical locations. CONCLUSION: Clinicians should have a high index of suspicion for IIH and brain tumours in children presenting with papilledema. Patients with craniosynostosis should have routine eye examinations to monitor for asymptomatic papilledema. Understanding the relative incidence of etiologies for papilledema highlights the urgency of appropriate work-up and the need to consider low-frequency etiologies.

MACULAR DETACHMENT ASSOCIATED WITH ANOMALOUS OPTIC NERVES AND DURAL ECTASIA IN 49, XXXXY SYNDROME.

PURPOSE: To present a case of a patient with XXXXY syndrome, anomalous optic nerves, and dural ectasia in conjunction with macular detachment. METHODS: Case report. RESULTS: A 3-year-old boy with XXXXY chromosomal abnormality presented with bilateral maculopathy. On evaluation, he was found to have anomalous optic disks with serous detachment of the left eye. Magnetic resonance imaging of the brain revealed bilateral optic nerve dural ectasia without evidence of elevated intracranial pressure. CONCLUSION: XXXXY syndrome, like the related condition of Klinefelter syndrome, can manifest with ocular abnormalities. In the present case, the dural ectasia may have facilitated access of cerebrospinal fluid through anomalous optic nerves, resulting in neurosensory detachment.

Combined strabismus and lens surgery.

BACKGROUND: Simultaneous eye muscle and lens surgery in patients with strabismus and lens abnormalities offers the advantage of avoiding staged surgery. METHODS: Thirty-three combined strabismus and lens surgeries were performed on 30 patients who ranged in age from 22 months to 91 years. Fifteen of the strabismus procedures were performed for esotropia, 12 for exotropia, 4 for vertical deviations, and 2 for combined vertical-horizontal deviations. Surgical amounts often were reduced to lessen the risk of overcorrection, to minimize anesthetic requirements (when using topical rather than general anesthesia), or to avoiding additional surgery on the contralateral or ipsilateral eye. The intraocular surgeries included cataract extraction without or with posterior chamber intraocular lens, secondary intraocular lens implantation, and YAG laser posterior capsulotomy. In 28 cases, muscle and intraocular surgery was performed on the same eye, and in 5 cases the strabismus surgery was performed on the eye opposite the intraocular surgery. RESULTS: The average length of postoperative follow-up was 23.2 months (range, 1-94 months). Surgical, anesthetic, and postoperative complications, other than unsatisfactory ocular alignment, were limited to one retinal detachment in a patient with persistent fetal vasculature. Strabismic undercorrections (>12(Delta) of horizontal deviation or >5(Delta) of vertical deviation) occurred in 11 cases (37%). There were no overcorrections. A poor visual response (<20/50) to the intraocular surgery was encountered in 6 patients, all as the result of amblyopia or preexisting vitreoretinal pathology. CONCLUSIONS: Simultaneous extraocular muscle and lens surgery is an option for patients with strabismus and lens abnormalities. Standard strabismus surgical amounts are recommended.

Medical imaging in pediatric neuro-ophthalmology.

This article provides an outline of the congenital and acquired conditions encountered in the practice of pediatric neuro-ophthalmology. Although some entities can be effectively evaluated clinically, CT and MR imaging studies may prove instrumental in many instances for detailed evaluation, narrowing of the differential diagnosis, or exclusion of underlying central nervous system pathologic findings.

High myopia associated with retinopathy of prematurity is primarily lenticular.

PURPOSE: To determine which of the eye's refractive components are responsible for the high myopia in retinopathy of prematurity (ROP), as compared with highly myopic eyes in full-term patients. METHODS: The study included 53 highly myopic eyes in 34 patients with a history of ROP, and 66 highly myopic eyes in 37 full-term patients. Measurements included refraction, keratometry, and A-scan values for axial length, lens thickness, lens position, anterior chamber depth, anterior segment depth, and lens power calculations. Comparisons were also made with published age-matched, full-term normal controls. RESULTS: Refractions ranged from a spherical-equivalent of -5.0 to -20.75, and from -5.0 to -22.0 diopters in ROP and full-term eyes, respectively. For ROP eyes, increasing myopia was most associated with lens thickness and lens power ( P < 0.001), with lesser contributions from corneal steepness, axial length, and a more forward position of the lens's center. For the eyes with myopia in full-term patients, increasing myopia was highly associated with axial length ( P < 0.001), with smaller contributions from increased lens thickness and lens power. ROP eyes had a lens-thickness/anterior-chamber-depth ratio almost 50% higher than FT and normative eyes. Anterior segment depth was remarkably similar in all eyes studied. CONCLUSIONS: High myopia associated with ROP appears pathophysiologically distinct from high myopia in full-term patients. The increased lens thickness seen in ROP eyes was accompanied by shallower anterior chamber depth and maintenance of the anterior segment depth, similar to the normal neonatal eye, suggesting a mechanism of altered anterior segment development in ROP leading to high myopia.

Macular optical coherence tomography in patients with unilateral optic nerve hypoplasia.

PURPOSE: To characterize the extent and location of macular thinning in patients with unilateral optic nerve hypoplasia (ONH) as compared to the contralateral normal eye. METHODS: The medical records of patients with unilateral ONH who underwent spectral domain optical coherence tomography (SD-OCT) of the macula were retrospectively reviewed. SD-OCT scans were manually segmented by 3 observers in 3 macular regions (superior, central, inferior). Boundaries identified included the inner limiting membrane, the junction between the inner nuclear layer and outer plexiform layer, and the neural retina-retinal pigment epithelium interface. Using custom MATLAB software, inner and outer retinal thickness profiles were quantified. A paired t test was used to compare the retinal thickness between the ONH eye and the contralateral normal eyes. RESULTS: Inner retinal thickness of the ONH eye was decreased in all areas of the macula (superior, central, and inferior) compared to the contralateral normal eye (P < 0.05). Outer retinal thicknesses were also decreased in the central and inferior sections compared with the normal eye (P < 0.05). CONCLUSIONS: Optic nerve hypoplasia is a congenital disease known to result in thinning of the nerve fiber and ganglion cell layer. Our small cohort demonstrated thinning of the inner retinal layers as well as the outer retinal layers in the ONH eye compared with the contralateral normal eye.

The eye examination in the pediatrician's office.

The visual system of children must be routinely examined by the pediatrician. Speed, skill and diagnostic abilities will increase quickly as the examination techniques described here are practiced on a daily basis. When parents recognize that the pediatrician is also concerned about their child's visual health and development, they will play a more active role in obtaining crucial family ocular history, note ocular changes that otherwise may be ignored, and, if indicated, participate in the referral and treatment process to avoid life-long visual consequences.

Anatomy, development, and physiology of the visual system.

This article serves to familiarize the reader with the normal anatomy, embryology, and physiology of the visual system. Other articles in this issue introduce examination techniques and the pathology of the eyes of pediatric patients.

Guidelines for pediatrician referrals to the ophthalmologist.

It is common in pediatric ophthalmology to see children with eye disorders that have gone undetected for years. Many conditions can progress slowly, are not painful, or are unilateral so as not to be bothersome to the child or noticeable to the parent or physician. Pediatricians often ask what they could have done to confirm the presence of the condition and whether the child should have been referred for specialty examination. The guidelines set forth in this article should clarify for the pediatrician which children warrant referral to the ophthalmologist.

Pediatric tumors of the eye and orbit.

Most ocular and orbital tumors of childhood are distinct from tumors that occur in adults. Many are congenital with early presentations. Most pediatric orbital tumors are benign; developmental cysts comprise half of orbital cases, with capillary hemangioma being the second most common orbital tumor. The most common orbital malignancy is rhabdomyosarcoma. The most common intraocular malignant lesion is retinoblastoma. Choroidal melanoma, which is common in adults, is extremely rare in children. The orbit is the most common location for metastases in children, whereas the choroid is the predominant site in adults. Pediatricians play a vital role in diagnosis of pediatric ocular tumors. They are the first to recognize ocular problems that may not be apparent to parents. It is therefore important to recognize the signs and symptoms of ocular tumors of childhood so that prompt ophthalmologic evaluation and treatment may be undertaken. Whereas the malignant tumors may be life-threatening, both malignant and benign tumors may be vision-threatening.

The visually impaired child.

This article discusses the causes of childhood blindness and how the primary care provider may begin the appropriate steps toward diagnosing and managing the visually impaired child. Community resources (see Box 3) and low-vision programs in schools should be used so that parents do not need to reinvent strategies to raise a blind child. Worldwide, childhood blindness, which places is a tremendous burden on families and communities of the third world, is mostly preventable with improved hygiene, diet, and immunization.

The child's eye in systemic diseases.

This article briefly describes the ocular manifestations of pediatric systemic diseases and gives practical advice regarding the management of the ocular involvement by the primary health care provider.

Ocular abnormalities in Floating-Harbor syndrome.

We present the first case report of a comprehensive eye examination in a patient with Floating-Harbor syndrome. Ocular findings were limited to partially accommodative, acquired esotropia, and unusual eyelashes. A variety of other ocular features have been previously reported in the nonophthalmic medical literature and are herein reviewed.

Apnea and bradycardia in two premature infants during routine outpatient retinopathy of prematurity screening.

Two unrelated premature infants at risk for retinopathy of prematurity (ROP) were discharged home from a neonatal intensive care unit. Appropriately timed ROP examinations were performed in an outpatient setting in a free-standing pediatric ophthalmologist's private office remote from any hospital. The infants developed severe apnea and bradycardia at the end of the ROP examinations. As a result, a new protocol for outpatient ROP screening was developed.

Oculomotor abnormalities in a patient with fragile X-associated tremor/ataxia syndrome.

We present a case report of an 80-year-old man with Fragile X-associated tremor/ataxia syndrome (FXTAS) and acquired diplopia, strabismus, and other oculomotor abnormalities. This is the first case report of ocular abnormalities in a patient with FXTAS.

The effectiveness of occluder contact lenses in improving occlusion compliance in patients that have failed traditional occlusion therapy.

PURPOSE: Management of infants and young children with dense amblyopia, including that which results from unilateral congenital cataracts, is challenging because of noncompliance with occlusion therapy. Occluder contact lenses (OCLs) have been described to successfully improve visual acuity in patients with amblyopia. The purpose of this study was to evaluate the effectiveness of OCLs in improving occlusion compliance in infants and young children with dense amblyopia who had failed traditional occlusion therapy. METHODS: Thirteen patients were fit in their nonamblyopic eye with OCLs provided by Wesley Jessen (Des Plaines, IL). All patients had dense amblyopia as diagnosed by a pediatric ophthalmologist. Nine of the 13 patients had deprivational amblyopia associated with unilateral aphakia, 2 patients had strabismic amblyopia, and the other 2 had mixed mechanism amblyopia. All patients had failed traditional occlusion methods. Occlusion was prescribed on a part-time basis to prevent occlusion amblyopia to the better-seeing eye. Compliance with the OCLs was determined by questioning the parents as to whether the prescribed occlusion time was accomplished. RESULTS: Five of the 13 patients (38.4%) did not succeed in the initial 1-mo trial period because of parental difficulties with lens handling. Four patients (30.7%) achieved partial success, as they were able to wear the lens between 4 to 14 mo, at which time they learned to remove the occluder lens. The four remaining patients (30.7%) successfully wore the occluder lenses until the conclusion of the study, a time period ranging from 26 to 60 mo. No complications resulted from OCLs. CONCLUSIONS: OCLs can provide an alternative to achieving occlusion compliance after the failure of traditional occlusion therapy in infants and young children with dense amblyopia.