Mark S. Ruttum

Shaken baby syndrome.

PURPOSEnTo examine the comprehensive ophthalmologic experience with the shaken baby syndrome at one medical center, including clinical findings, autopsy findings, and the outcome of survivors.nnnDESIGNnRetrospective, noncomparative case series.nnnPARTICIPANTSnOne hundred twenty-three children admitted from January 1987 through December 1998 for subdural hematomas of the brain secondary to abuse were included.nnnMETHODSnClinical features of eye examinations of the patients during their admission and after discharge and histopathologic observations for patients who died were retrieved from medical records and statistically analyzed.nnnMAIN OUTCOME MEASURESnVisual response and pupillary response on initial examination, fundus findings, final vision, neurologic outcome of survivors, and death.nnnRESULTSnNinety percent of the patients had ophthalmologic assessments. Retinal hemorrhages were detected in 83% of the examined children. The retinal hemorrhages were bilateral in 85% of affected children and varied in type and location. Nonophthalmologists missed the hemorrhages in 29% of affected patients. Poor visual response, poor pupillary response, and retinal hemorrhage correlated strongly with the demise of the child. One child who died had pigmented retinal scars from previous abuse, a condition not previously observed histopathologically to our knowledge. One fifth of the survivors had poor vision, largely the result of cerebral visual impairment. Severe neurologic impairment correlated highly with loss of vision.nnnCONCLUSIONSnShaken baby syndrome causes devastating injury to the brain and thus to vision. Retinal hemorrhages are extremely common, but vision loss is most often the result of brain injury. The patients visual reaction and pupillary response on presentation showed a high correlation with survival. Good initial visual reaction was highly correlated with good final vision and neurologic outcome. According to the literature, when retinal hemorrhages are found in young children, the likelihood that abuse occurred is very high. Nonophthalmologists difficulty in detecting retinal hemorrhages may be an important limiting factor in identifying shaken babies so they can be protected from further abuse.

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).

Congenital fibrosis of the extraocular muscles type 1 (CFEOM1; OMIM #135700) is an autosomal dominant strabismus disorder associated with defects of the oculomotor nerve. We show that individuals with CFEOM1 harbor heterozygous missense mutations in a kinesin motor protein encoded by KIF21A. We identified six different mutations in 44 of 45 probands. The primary mutational hotspots are in the stalk domain, highlighting an important new role for KIF21A and its stalk in the formation of the oculomotor axis.

Bilateral retinal embolization associated with intralesional corticosteroid injection for capillary hemangioma of infancy

A 2-month-old female infant underwent intralesional corticosteroid injection for a capillary hemangioma that was causing amblyopia of the right eye from ptosis, globe displacement, and astigmatism. Forty-eight hours after the injection, the infants parents noted that she was visually inattentive. On examination, she could not fixate or follow with either eye, and an afferent pupillary defect was present in the left eye. Ophthalmoscopy showed scattered areas of intraretinal hemorrhage in the right eye and extensive preretinal and intraretinal hemorrhages in the left eye. Ten months after injection, the hemangioma had greatly regressed, and visual acuity in the right eye was felt to be normal. The left eye had unsteady fixation with a persistent afferent pupillary defect and macular scarring. Retrograde flow of the corticosteroid suspension through the hemangiomas feeder vessels, probably originating from both ophthalmic arteries, is the most likely explanation for this complication.

Pseudophakia for traumatic cataracts in children.

Purpose: The purpose of this prospective study is to evaluate the postoperative visual acuity, refractive error, intraocular pressure, and status of the posterior capsule in children with traumatic cataracts who undergo extracapsular cataract extraction and insertion of a posterior chamber lens. Methods: Extracapsular cataract extraction and primary endocapsular fixation of a posterior chamber lens implant were performed in eight children (age range, 4–17 years) with unilateral traumatic cataracts. Results: There were no intraoperative complications, and seven of eight eyes achieved 20/40 or greater spectacle visual acuity during an average follow-up interval of 10 months (range, 5–20 months). The average postoperative spherical equivalent refractive error was +0.33 diopter (D) (range, −2.25 to +2.12 D); the average postoperative anisometropia was approximately 1 D (range, 0–2.25 D). In one patient, a coagulase-negative staphylococcal endophthalmitis developed 10 days after surgery. In three eyes that had opacified posterior capsules, YAG laser capsulotomy was performed. Conclusions: These preliminary results suggest that intraocular lens (IOL) implantation may be a safe and effective method of optical correction for children with traumatic cataracts.

Chorioretinal colobomas in a pediatric population

OBJECTIVEnThe purpose of the study was to determine the prevalence of retinal detachment and associated anomalies in pediatric patients with chorioretinal colobomas.nnnDESIGNnObservational case series.nnnPARTICIPANTSnForty-eight patients (86 eyes) of patients with chorioretinal colobomas followed in two academic pediatric eye clinics were reviewed.nnnMAIN OUTCOME MEASURESnThe frequency of associated systemic abnormalities and the prevalence of retinal or choroidal detachment during the follow-up period.nnnRESULTSnForty-eight patients (86 eyes) were identified; ocular involvement ranged from small colobomas with isolated chorioretinal involvement to large colobomas affecting the iris, choroid, retina, and optic nerve. The mean ages at initial and most recent examinations were 27 and 100 months, respectively. Follow-up averaged 6 years, 1 month. Six retinal detachments were found in four patients. Patient ages at the time of detection of retinal detachment were 5 months, 29 months, 10 years, and 15 years. A choroidal detachment was found in a child at age 9 years. The combined prevalence of retinal or choroidal detachment was 10.4% of patients and 8.1% of affected eyes. Thirteen eyes were microphthalmic, and six had microcornea. Eighteen patients (38%) had other systemic abnormalities.nnnCONCLUSIONSnThe 8.1% prevalence of retinal or choroidal detachment among eyes in our series was much smaller than previously cited estimates of 23% to 43%. The higher figures probably reflect a referral bias toward patients with vitreoretinal problems and an older patient population. Because of the acknowledged difficulty of managing retinal detachments in patients with chorioretinal colobomas, emphasis should be directed toward early detection and possible prophylactic therapy. The high proportion of patients who have associated systemic abnormalities indicates the need for thorough evaluation of these children by other pediatric specialists.

Ocular findings after bone marrow transplantation in a pediatric population

PURPOSEnWith the increasing use of bone marrow transplantation (BMT) in children to treat diseases of the hematopoietic system, ocular complications have been recognized in greater numbers. The authors performed a retrospective study to determine the prevalence and types of ocular abnormalities in a pediatric population following BMT.nnnDESIGNnRetrospective noncomparative study.nnnPARTICIPANTSnOne hundred and four consecutive pediatric patients with aplastic anemia and various hematologic malignancies who required BMT.nnnINTERVENTIONnBone marrow transplantation.nnnMAIN OUTCOME MEASURESnVisual acuity and slit-lamp biomicroscopic and funduscopic examinations.nnnRESULTSnOcular changes developed in 51% of patients. The most frequent findings included dry eye syndrome (12.5%), cataract (23.0%), and posterior segment complications (13.5%). A final visual acuity of 20/40 or better was achieved in 95.7% of eyes.nnnCONCLUSIONSnPediatric patients can develop severe and potentially vision-threatening complications following BMT. Despite the high incidence of anterior and posterior segment abnormalities, ocular symptoms were generally mild and the majority of patients retained excellent visual function. Factors associated with ocular complications included the underlying disease, total body irradiation, systemic chemotherapy, graft-versus-host disease, and immunosuppression. Familiarity with these risk factors and potential complications in pediatric patients is important for successful treatment.

CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX

BackgroundTo learn about the molecular etiology of strabismus, we are studying the genetic basis of congenital fibrosis of the extraocular muscles (CFEOM). These syndromes are characterized by congenital restrictive ophthalmoplegia affecting muscles in the oculomotor and trochlear nerve distribution. Individuals with the classic form of CFEOM are born with bilateral ptosis and infraducted globes. When all affected members of a family have classic CFEOM, we classify the family as a CFEOM1 pedigree. We have previously determined that a CFEOM1 gene maps to the FEOM1 locus on chromosome 12cen. We now identify additional pedigrees with CFEOM1 to determine if the disorder is genetically heterogeneous and, if so, if any affected members of CFEOM1 pedigrees or sporadic cases of classic CFEOM harbor mutations in ARIX, the CFEOM2 disease gene.ResultsEleven new CFEOM1 pedigrees were identified. All demonstrated autosomal dominant inheritance, and nine were consistent with linkage to FEOM1. Two small CFEOM1 families were not linked to FEOM1, and both were consistent with linkage to FEOM3. We screened two CFEOM1 families consistent with linkage to FEOM2 and 5 sporadic individuals with classic CFEOM and did not detect ARIX mutations.ConclusionsThe phenotype of two small CFEOM1 families does not map to FEOM1, establishing genetic heterogeneity for this disorder. These two families may harbor mutations in the FEOM3 gene, as their phenotype is consistent with linkage to this locus. Thus far, we have not identified ARIX mutations in any affected members of CFEOM1 pedigrees or in any sporadic cases of classic CFEOM.

Keratopathy in a family with the ectrodactyly-ectodermal dysplasia-clefting syndrome.

Four members of a family with the ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome and associated keratopathy are presented. The main features of this syndrome include lobster-claw deformities of the hands and feet, abnormalities of the hair and teeth, cleft lip and palate, nasolacrimal abnormalities, and a progressive keratopathy ranging in severity from an asymptomatic pannus to bilateral dense corneal scarring and neovascularization. Despite congenital limb abnormalities, the major functional disability of three of these patients stems from severe photophobia and decreased visual acuity secondary to the corneal disease. Treatment with cycloplegics, topical steroids, and bandage soft contact lenses was unsuccessful. The EEC syndrome is transmitted in an autosomal dominant manner. The spectrum of keratopathy demonstrated in this family can be explained by the different ages of the patients, by variation in gene penetrance and expressivity and by differing durations and severity of dacryocystitis and related keratoconjunctivitis. The etiology of the keratopathy appears to be primarily a manifestation of the underlying ectodermal dysplasia with probable contributions from associated tearfilm abnormalities and external ocular infection.

Subgaleal Hematoma with Delayed Proptosis and Corneal Ulceration

We report the delayed occurrence in a child of proptosis caused by a subgaleal hematoma. A corneal ulcer resulted from the proptosis, which developed 9 days after mild head trauma. Evaluation revealed a heterozygous factor VII deficiency. The coagulopathy and, more likely, the use of the nonsteroidal antiinflammatory drug ibuprofen may have contributed to the extension of the hematoma into the orbital space. Careful follow-up of patients with subgaleal hematomas is necessary because the development of proptosis may be delayed.

The IOLAB, Inc pediatric intraocular lens study

Abstract Purpose: This report is a summary of the data of the IOLAB, Inc pediatric intraocular lens (IOL) implantation investigation. The goal of this study was to evaluate the safety and efficacy of IOL implantation for the treatment of pediatric aphakia, pending approval by the Food and Drug Administration. Methods: From May 1981 to July 1994, a total of 1260 pediatric eyes received 171 styles of IOLs implanted by 361 US investigators. Preoperative, operative, and postoperative status reports over the first year were required for each eye entered into the study. Annual visit reports were requested thereafter to determine the long-term effects. The study was terminated in November 1995. All IOLs were obtained from IOLAB, Inc (now Chiron Vision Corp). Results: Reporting compliance was 98.3% for the preoperative and operative reports, 45.1% at 1 year, and 13.8% at 3 years. The subjects ages ranged from younger than 1 year to 17 years. Nine subjects (0.7%) were younger than 1 year, with the largest group of 533 subjects (42.3%) aged between 6 and 12 years at the time of surgery. Cataract types were congenital (45.6%), traumatic (37.1%), secondary (11%), senile (0.95%), and unrecorded (5.4%). The IOL was implanted primarily in 74.8% of cases and secondarily in 21.4% of cases. There was no record in 3.8% of the cases. IOL types included anterior chamber (4.1%), iridocapsular (0.71%), posterior chamber (93.6%), and unrecorded (1.59%). There were 130 adverse reactions that required secondary surgical intervention. The most frequently performed surgical procedures included lens removal without replacement, vitrectomy, lens repositioning, and lens replacement. More than half (52%) of all eyes had a visual acuity of 20/200 or worse before surgery; amblyopia was reported in 21.1% of all participants at baseline. Postoperative visual acuity data were available on 563 eyes at 1 year after surgery. Overall, 52.8% of all eyes attained a visual acuity of 20/40 or better by the 1-year visit, and only 15.5% had visual acuity worse than 20/200. In general, the older patient, traumatic cataract, and secondary cataract categories were overrepresented in the better visual acuity outcome group. Conclusion: The IOLAB, Inc pediatric IOL study is the first multiple- practitioner, national study designed to evaluate the safety and efficacy of IOL implantation in children. The study results are compromised by the almost 50% loss of follow-up at the 1-year evaluation. Other variables that most likely influenced outcome results were the methods of cataract extraction, medical management, and IOL design, all of which evolved dramatically over the time course of the study. Despite these issues, pediatric IOL implantation seems to be a reasonable treatment modality for aphakia, on the basis of the available 1-year follow-up data of the remaining 45.1% of eyes in the study. (J AAPOS 1999;3:295-302)