Manifestations of the shaken baby syndrome.

Retinal hemorrhages are the most common fundus finding in the shaken baby syndrome. They vary in type and location; no particular type is pathognomonic for the condition. Retinal hemorrhages are not needed to make a diagnosis of shaken baby syndrome. However, in a child under age 3 years, the presence of extensive bilateral retinal hemorrhages raises a very strong possibility of abuse, which must be investigated. The other possible causes for hemorrhages in this age child can be investigated and eliminated. The diagnosis of abuse should be made by someone particularly trained in this area, who can put together the entire picture of inadequate or changing history, fractures of various ages, particularly rib fractures, subdural hematoma of the brain, and retinal hemorrhages. Photographs of retinal hemorrhages are very helpful to child advocacy experts who take these cases to court.

Shaken baby syndrome.

PURPOSE: To examine the comprehensive ophthalmologic experience with the shaken baby syndrome at one medical center, including clinical findings, autopsy findings, and the outcome of survivors. DESIGN: Retrospective, noncomparative case series. PARTICIPANTS: One hundred twenty-three children admitted from January 1987 through December 1998 for subdural hematomas of the brain secondary to abuse were included. METHODS: Clinical 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. MAIN OUTCOME MEASURES: Visual response and pupillary response on initial examination, fundus findings, final vision, neurologic outcome of survivors, and death. RESULTS: Ninety 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. CONCLUSIONS: Shaken 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 patient's 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.

Ocular findings after bone marrow transplantation in a pediatric population.

PURPOSE: With 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. DESIGN: Retrospective noncomparative study. PARTICIPANTS: One hundred and four consecutive pediatric patients with aplastic anemia and various hematologic malignancies who required BMT. INTERVENTION: Bone marrow transplantation. MAIN OUTCOME MEASURES: Visual acuity and slit-lamp biomicroscopic and funduscopic examinations. RESULTS: Ocular 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. CONCLUSIONS: Pediatric 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.

A 12-year ophthalmologic experience with the shaken baby syndrome at a regional children's hospital.

PURPOSE: To examine the ophthalmologic experience with the shaken baby syndrome (SBS) at one medical center, including clinical findings, autopsy findings, and the visual outcome of survivors. METHODS: One hundred sixteen patients admitted from 1987 to 1998 for subdural hematomas of the brain secondary to abuse were included. RESULTS: Retinal hemorrhages were detected in 84% of the children, but this important finding had been missed often by nonophthalmologists. Poor visual response, poor pupillary response, and retinal hemorrhage correlated strongly with demise of the child. One child who died had pigmented retinal scars from previous abuse, a condition not previously observed histopathologically. The clinical and autopsy findings varied somewhat, probably because of the differing conditions for examination. No correlation could be made between computerized tomography scans done during life and the subdural hemorrhage of the optic nerve found on autopsy. Half of the surviving patients were known to have good vision. One fourth of the patients had poor vision, largely due to cerebral visual impairment from bilateral injury posterior to the optic chiasm. Severe neurologic impairment correlated highly with loss of vision. CONCLUSION: This series provides information on the frequency of eye findings in SBS patients. No fundus finding is pathognomonic for SBS. When retinal hemorrhages are found in young children, the likelihood that abuse occurred is very high. The difficulty that nonophthalmologists have in detecting retinal hemorrhage may be an important limiting factor in finding these children so they may be protected from further abuse.

Early retinal vessel development and iris vessel dilatation as factors in retinopathy of prematurity. Cryotherapy for Retinopathy of Prematurity (CRYO-ROP) Cooperative Group.

OBJECTIVE: To determine whether the extent of retinal vessel development present on early screening examinations for retinopathy of prematurity has prognostic value? DESIGN: The prospectively collected data from the Multicenter Trial of Cryotherapy for Retinopathy of Prematurity were used to compare the development of acute retinopathy of prematurity and long-term structural and visual outcomes for eyes with differing extents of retinal vessel development. PATIENT: Study patients had eyes with the following vessel development. In zone I eyes, vessels extended from the disc less than twice the distance from the disc to the macula. In zone II eyes, vessels extended beyond zone I but not to the nasal ora serrata. Transitional eyes had vessels partly in zone I and partly in zone II. RESULTS: The chance of developing threshold retinopathy of prematurity was inversely related to the early degree of vessel development: 54% for zone I eyes, 25% for transitional eyes, and 8% for zone II eyes. The presence of prominent iris vessels at 34 to 35 weeks of postmenstrual age was associated with increased risk for all three groups; zone I eyes almost always needed treatment (94%). The chance of having an unfavorable anatomic alteration of the posterior fundus, or poor vision at the ages of 1 year and 3 1/2 years, was also inversely related to the degree of early vessel development. Vessel development was an independently important factor even when birth weight, gestational age, and race were considered. CONCLUSIONS: The degree of early retinal vessel development is a significant predictor of outcome from retinopathy of prematurity. Iris vessel dilatation is an important indication for greater vigilance in following these infants.

A progressive early onset cataract gene maps to human chromosome 17q24.

Cerulean cataract is an autosomal dominant, early onset, progressive cataract characterized by blue or white opacifications in the nucleus and cortex of the lens. A large four-generation pedigree in which cerulean cataract segregates was studied for linkage analysis. A genome wide search was undertaken after the plausible candidate genes were excluded and the cerulean cataract phenotype was mapped to chromosome 17q24. The three markers closest to the disease gene are D17S802 (Z)(theta) = 9.46 at (theta) = 0.085), D17S836 (Z(theta) = 5.26 at (theta) = 0.031) and AFMa238yb5 (Z(theta) = 7.11 at (theta) = 0.032). Multipoint linkage analyses yielded a maximum lod score of Z(theta) = 13.71, placing the cerulean cataract gene between D17S802 and D17S836 at (theta) = 0.048 and (theta) = 0.013, respectively.

Periocular infection after strabismus surgery. The Periocular Infection Study Group.

Fewer than 15 cases of cellulitis and subconjunctival abscess after extraocular muscle surgery have been reported in detail. In an effort to provide greater information about this serious complication, the members of the American Association for Pediatric Ophthalmology and Strabismus (AAPO&S) were surveyed and contributed cases were analyzed. Among the 25 cases of cellulitis, there was a predominance of preschool age patients and Staphylococcus aureus cultures. Many cases presented after a normal initial postoperative visit. The most common symptoms were marked swelling and pain. Possible predisposing factors included unsuspected sinusitis, eye rubbing, and poor hygiene. Two patients had documented bacteremia, but no patient developed endophthalmitis. All cases resolved on antibiotics, but only five patients were successfully treated with oral antibiotics alone. Periocular infections after extraocular muscle surgery can present after a normal initial postoperative visit. Symptoms of marked swelling and pain are cause for closer inspection. S. aureus is the most common organism and oral antibiotics alone can fail to halt the infection.

Pseudotumor cerebri with vision impairment in two children with renal transplantation.

The syndrome of pseudotumor cerebri consists of headaches, difficulty with vision and papilledema associated with raised intracranial pressure (ICP) without localizing neurological mass lesions. Recently, an association of pseudotumor cerebri and renal insufficiency, chronic dialysis or renal transplantation has been noted. Loss of vision remains a serious threat in children with pseudotumor cerebri. We report two children who developed pseudotumor cerebri with impairment of vision 5 years after renal transplantation. An awareness of this association should prompt the nephrologist to investigate and treat the symptoms of raised ICP to prevent visual loss.

Brachymesomelia and Peters anomaly: a new syndrome.

We report on a child with an unusual mesomelic bone dysplasia and Peters anomaly. While there is some resemblance to the radiographic findings and corneal clouding described by Pillay in the OMMD (ophthalmomandibulo-melic dysplasia) syndrome, there are also differences. The several syndromes that combine brachymesomelia and corneal clouding are discussed.

Linkage analysis of Norrie disease with an X-chromosomal ornithine aminotransferase locus.

Norrie disease is a rare disease of newborn males caused by prenatal or perinatal retinal detachment, which may be associated with mental retardation, psychosis, and/or hearing loss. DXS7 (L1.28) and MAO A and B loci have been linked to the ND locus on the short arm of the X chromosome. Sequences homologous to OAT also have been mapped to the short arm of the X chromosome. We performed linkage analyses between the ND locus and one of the OAT-like clusters of sequences on the X chromosome (OATL1), using a ScaI RFLP in a ND family, and increased the previously calculated lod score (z) to over 3 (3.38; theta = 0.05). Similarly, we calculated a lod score of 4.06 (theta = 0.01) between the OATL1 and DXS7 loci. Alone, the OATL1 ScaI RFLP system is expected to be informative in 48% of females. If this system were used in combination with the DXS7 TaqI polymorphism, 71% of females would be informative for at least one of the markers and 21% would be informative for both. Because the OATL1 ScaI RFLP is a relatively common polymorphism, this system should be useful for the identification of ND carriers and affected male fetuses and newborns.

Surgical dissection of capillary hemangiomas. An alternative to intralesional corticosteroids.

Intralesional corticosteroids are often successful in reducing the size of functionally significant capillary hemangiomas. While they may have a better benefit-risk ratio than some earlier treatment methods, a number of serious complications have been reported recently. We believe these resulted from the hemodynamic continuity of capillary hemangiomas with the orbital and systemic circulation and that intralesional injections are intravascular. Surgery has generally been avoided because capillary hemangiomas are not encapsulated and piecemeal resection can produce significant bleeding. In carefully selected patients, we have used a surgical approach that involves dissection on the tumor's surface without entering its substance. Hemangiomas were removed en bloc from five patients with insignificant blood loss and excellent anatomic restoration.

Identification and treatment of retinopathy of prematurity: an update and review.

The risk of retinopathy of prematurity (ROP) is higher in infants with a birth weight less than 1501 g (3 lb 5 oz). Identification programs coupled with refined treatment procedures can reduce visual impairment in infants with ROP. Physicians providing in-hospital care to these infants should ensure that ophthalmologic referral has been established before hospital discharge. Physicians examining these infants for their 6-week checkups are also vital safeguards in the ROP screening and referral process.

The visually inattentive preterm infant.

A retrospective study was made of 16 premature infants who were visually inattentive despite normal eye findings and a lack of factors predisposing them to cerebral blindness. A comparison of this study group with other premature infants who were visually attentive revealed a much greater incidence of upper motor neuron disease and mental retardation in the study infants.

Ornithine aminotransferase (OAT): recombination between an X-linked OAT sequence (7.5 kb) and the Norrie disease locus.

A human ornithine aminotransferase (OAT) locus has been mapped to the Xp11.2, as has the Norrie disease locus. We used a cDNA probe to investigate a 3-generation UCLA family with Norrie disease; a 4.2-kb RFLP was detected and a maximum lod score of 0.602 at zero recombination fraction was calculated. We used the same probe to study a second multigeneration family with Norrie disease from Utah. A different RFLP of 7.5 kb in size was identified and a recombinational event between the OAT locus represented by this RFLP and the disease loci was observed. Linkage analysis of these two loci in this family revealed a maximum load score of 1.88 at a recombination fraction of 0.10. Although both families have affected members with the same disease, the lod scores are reported separately because the 4.2- and 7.5-kb RFLPs may represent two different loci for the X-linked OAT.

Follow up retrospective study of compliance with a standard of care for retinopathy of prematurity in one neonatal intensive care unit.

A retrospective chart review was conducted to determine the impact of recently instituted guidelines on compliance with the standard of care for retinopathy of prematurity (ROP) in the Newborn Intensive Care Unit at the University of Utah Medical Center. In a previous study, it was found that infants eligible for participation in a National Institutes of Health-funded study of ROP were routinely receiving screening eye examinations, whereas infants who qualified for ROP screening according to the standard of care, but not eligible for the study, were seen infrequently. Consequently, a plan to improve the compliance with the standard of care for all infants who fit the standard criteria was implemented. The comparison revealed significant improvement in compliance rates. In one subgrouping of infants, compliance rose from three of 16 (18.75%) infants screened for ROP according to the standard of care, to nine of 11 (82%) infants screened for ROP according to the revised standard. This increase in compliance appears to be due to adherence to guidelines recommended in an earlier study, which included increasing staff awareness of the standard of care, designating a person to schedule and track infants who fit the screening criteria, and including the need for ROP screening on the admission and discharge summary.

Compliance with a standard of care for retinopathy of prematurity in one neonatal intensive care unit.

Standards of care are an integral part of providing safe and proper health care to the public. One such standard is the screening of premature infants for retinopathy of prematurity. In a retrospective chart review of 67 infants in an intensive care nursery, a high incidence of non-compliance with the standard was found in infants with over 1251-g birth weight, but that infants under 1251-g birth weight and eligible for participation in an investigation of retinopathy of prematurity had a high degree of compliance with the standard. These findings resulted in the adoption of recommendations to improve compliance with the standard.

Further linkage data on Norrie disease.

We obtained a LOD score of +1.61 using DNA marker L1.28 in 5 generations of a family with Norrie disease, raising the total LOD score to +5.42. There have been no recombinations between the 2 loci in any family to date, making the marker useful for genetic counseling.

Dominantly inherited keratitis.

A new, autosomal dominant keratitis is presented. The onset occurs in early childhood with episodes of red, irritated eyes but not recurrent erosions. There are no associated systemic abnormalities. The primary histopathologic features are vascularization and inflammation of the anterior corneal stroma, and replacement of Bowman's layer by fibrovascular tissue. Thus, this disease demonstrates characteristics of both a dystrophy with familial occurrence and early onset, and a degeneration with primary inflammation and vascularization.

Fundus flavimaculatus without maculopathy. A clinicopathologic study.

We studied the eyes of a 51-year-old man with the clinical diagnosis of fundus flavimaculatus without macular involvement by light and electron microscopy. Scanning and transmission electron microscopy revealed elevated aggregates of enlarged retinal pigment epithelial cells with apices distended by accumulated lipid membranes with a tubulo-vesicular appearance. Histochemical and ultrastructural studies failed to demonstrate abnormal accumulation of lipofuscin or acid mucopolysaccharide. The disorder, known clinically as fundus flavimaculatus, may represent two or more metabolic disorders of the retinal pigment epithelium characterized by distinct histochemical and ultrastructural features.