Potential blindness from nutritional xerophthalmia in autistic patients.

BACKGROUND: Vitamin A is vital to retinal rod function and epithelial cell differentiation. Although uncommon in the developed world, vitamin A deficiency (VAD) secondary to poor diets or gastrointestinal disease has been reported and can lead to xerophthalmia, which is characterized by night blindness and a spectrum of ocular surface changes. Patients with autism spectrum disorder have been shown to have restrictive diets secondary to sensory issues leading to rejection of foods except for those of certain color or texture. METHODS: We present a case series of 6 pediatric patients with autism who developed varying degrees of xerophthalmia due to VAD, which resulted from restrictive eating. RESULTS: All patients presented with a history of eye irritation that was not relieved by antibiotic or allergy eye drops. Further questioning revealed they had restrictive diets consisting of only or mostly white and tan foods, and serum vitamin A testing confirmed severe VAD. Most stages of xerophthalmia were completely reversed with vitamin A supplementation, but in 2 patients more advanced xerophthalmia resulted in irreversible blindness and ocular damage. CONCLUSIONS: Both pediatricians and pediatric eye care providers must be vigilant for VAD as an etiology of eye irritation, photophobia, or new-onset visual impairment in autistic children. A review of the child's diet must be implemented as a standard part of routine history taken in this vulnerable population. Early identification and vitamin A supplementation can prevent irreversible ocular compromise and vision loss.

Iris and orbital myeloid sarcoma in a pediatric patient.

We report the case of a 35-month-old previously healthy girl who presented with a history of several months of both an enlarging orbital mass and a contralateral iris mass as her initial signs of acute myeloid leukemia.

Uveitis in pediatric inflammatory bowel disease.

There are currently no official uveitis screening guidelines for children with inflammatory bowel disease (IBD). In this retrospective cohort study of children with IBD with at least 1 ophthalmologist examination over 12 years, we investigated the prevalence and characteristics of uveitis in pediatric IBD. Outcomes included prevalence of uveitis, age at onset, and clinical characteristics of uveitis. A total of 315 children with IBD (mean age, 11.7 ± 4.3) had 974 eye examinations. Five children (1.6%; 95% CI, 0.7%-3.7%) had uveitis, with mean age at onset of 14.3 ± 5.6 years. Three of 209 children with Crohn's disease (1.4%; 95% CI, 0.5%-4.1%), 2 of 55 with IBD-unclassified (3.6%; 95% CI, 1.0%-12.3%) and 0 of 51 with ulcerative colitis (95% CI, 0.0%-7.0%) had uveitis. All uveitis was symptomatic. In our study cohort, uveitis was rare and symptomatic in pediatric IBD.

Immunomodulation and TNF-α inhibition for tubulointerstitial nephritis and uveitis syndrome: a case series.

BACKGROUND: Tubulointerstitial nephritis and uveitis (TINU) syndrome combines acute inflammatory nephritis (AIN) and uveitis. Uveitis in TINU often requires systemic immunomodulatory therapy (IMT), including steroid-sparing agents. Although common for other noninfectious uveitides, the use of tumor necrosis factor-α inhibitors (TNFi) in TINU has seldom been described. METHODS: This retrospective case series included patients <18 years of age with TINU followed at our tertiary care pediatric hospital. Disease characteristics at time of diagnosis and subsequent ophthalmological and rheumatologic evaluations were extracted from the record. AIN was defined as the presence of abnormal renal function and urinalysis or renal biopsy findings consistent with TINU. Uveitis grading, site of inflammation, inactivity, and flare were defined according to Standardization of Uveitis Nomenclature. RESULTS: A total of 10 patients (median age, 12.3 years; 6 females) were included. AIN preceded uveitis onset in 6 patients. Uveitis was bilateral at onset in 7 patients. Uveitis inactivity was achieved with systemic corticosteroids (CS) in 2 and with mycophenolate mofetil (MMF) in 3 patients. Because of persistent ocular inflammation, despite CS and IMT, 4 patients were treated with TNFi. All rapidly achieved uveitis quiescence and maintained prolonged inactivity under combined treatment with TNFi and MMF. CONCLUSIONS: Most patients in our study cohort required a steroid-sparing immunomodulator to achieve and maintain uveitis control. In the 50% of the cohort in whom conventional IMTs were inadequate, TNFi were able to maintain quiescence. TNF inhibition might be a useful treatment in IMT-refractory uveitis in TINU patients.

Symptoms in noninfectious uveitis in a pediatric cohort: Initial presentation versus recurrences.

PURPOSE: To describe the prevalence of symptoms with noninfectious uveitis (NIU) in a pediatric cohort and to assess the association between the presence of symptoms with first episode of uveitis (first-U) compared to symptoms at uveitis recurrence. METHODS: The medical records of patients with NIU treated at a tertiary referral hospital from March 2008 to November 2107 were reviewed retrospectively. Symptomaticity (eye pain, eye redness, photosensitivity) was captured at initial uveitis activation and subsequent episodes. Univariate logistic regression modeling was used to identify clinical features associated with symptomatic first-U. Ordinal regression identified patient characteristics associated with symptomatic recurrence. RESULTS: A total of 118 cases were reviewed; of these, 92 were followed for at least 6 months and had at least 1 reactivation. Juvenile idiopathic arthritis-related uveitis (JIAU) was the most common diagnosis (67/118 [57%]), followed by idiopathic uveitis (33%). In the majority, uveitis was restricted to the anterior chamber (82%). Of the 118 cases, 58 patients (49%) had symptomatic first-U, 34% JIA versus 69% non-JIA. Non-JIAU, age ≥7 years, and negative antinuclear antibody (ANA) test were significantly associated with symptomatic first-U; spondyloarthritis was not. With recurrence, half had symptoms: 41% JIA versus 66% non-JIA. Of those who had symptomatic first-U, 35% were asymptomatic at recurrence. Those with JIA had 50% or less odds of symptomaticity at reactivation. Complications did not vary based on having had symptoms at first-U. CONCLUSIONS: Non-JIA diagnosis, older age, and ANA-negativity were associated with symptomatic first-U in our study cohort, but no patient characteristics were significantly associated with symptomatic recurrence. Clinical patterns may change during disease course, with uveitis switching from symptomatic to asymptomatic, which has implications for uveitis monitoring recommendations.

Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss.

PURPOSE: To describe in detail the retinal structure and function of a group of patients with cobalamin C (cblC) disease. METHODS: Patients (n = 11, age 4 months to 15 years) with cblC disease (9/11, early onset) diagnosed by newborn screening underwent complete ophthalmic examinations, fundus photography, near-infrared reflectance imaging, and spectral-domain optical coherence tomography (SD-OCT). Electroretinograms (ERGs) were performed in a subset of patients. RESULTS: Patients carried homozygous or compound heterozygote mutations in the methylmalonic aciduria and homocystinuria type C (MMACHC) gene. Late-onset patients had a normal exam. All early-onset patients showed a maculopathy; older subjects had a retina-wide degeneration (n = 4; >7 years of age). In general, retinal changes were first observed before 1 year of age and progressed within months to a well-established maculopathy. Pseudocolobomas were documented in three patients. Measurable visual acuities ranged from 20/200 to 20/540. Nystagmus was present in 8/11 patients; 5/6 patients had normal ERGs; 1/6 had reduced rod-mediated responses. Spectral-domain OCT showed macular thinning, with severe ganglion cell layer (GCL) and outer nuclear layer (ONL) loss. Inner retinal thickening was observed in areas of total GCL/ONL loss. A normal lamination pattern in the peripapillary nasal retina was often seen despite severe central and/or retina-wide disease. CONCLUSIONS: Patients with early-onset cblC and MMACHC mutations showed an early-onset, unusually fast-progressing maculopathy with severe central ONL and GCL loss. An abnormally thickened inner retina supports a remodeling response to both photoreceptor and ganglion cell degeneration and/or an interference with normal development in early-onset cblC.

Retinal Structure in Cobalamin C Disease: Mechanistic and Therapeutic Implications.

PURPOSE: To describe the retinal structure in a patient with cobalamin C (cblC) disease. METHODS: A 13-year-old male patient diagnosed with cblC disease during a perinatal metabolic screening prompted by jaundice and hypotony underwent ophthalmic examinations, electroretinography (ERG) and spectral domain optical coherence tomography (SD-OCT). RESULTS: The patient carried a homozygous (c.271dupA) mutation in the methylmalonic aciduria and homocystinuria type C (MMACHC) gene. At age 3 months he had a normal eye exam. A pigmentary maculopathy progressed to chorioretinal atrophy from 5-10 months. ERG at 7 months was normal. A nystagmus remained stable since the age of 2 years. At age 13, visual acuity was 20/250 (right eye) and 20/400 (left eye), with a +5.00 D correction, a level of vision maintained since first measurable at age 5 years. SD-OCT showed bilateral macular coloboma-like lesions; there was also a thickened surface layer with ganglion cell layer thinning. Photoreceptor outer segment loss and thinning of the outer nuclear layer (ONL) transitioned to regions with no discernible ONL with a delaminated, thickened, inner retina. CONCLUSIONS: A thick surface layer near the optic nerve resembling an immature retina and an initially normal macula that rapidly developed coloboma-like lesions suggest there may be an interference with retinal/foveal development in cblC, a mechanism of maculopathy that may be shared by other early onset retinal degenerations. Photoreceptor loss and inner retinal remodeling confirm associated photoreceptor degeneration.

Update on management of herpes keratitis in children.

PURPOSE OF REVIEW: To summarize the articles published in 2012 pertaining to the clinical presentation, diagnosis, and treatment of herpetic keratitis, with specific attention to pediatric population. RECENT FINDINGS: Liu et al. confirm prior literature that herpetic keratitis has higher recurrence rate in children than adults. Recurrences are more likely to occur as stromal disease. Vision loss in children is from corneal scarring leading to deprivation and/or refractive amblyopia. Acyclovir is safe and well tolerated as a treatment in pediatric population, and preferable to difficult and toxic eye-drop regimens.Immunochromatographic assay is an effective diagnostic tool to confirm diagnosis of herpes simplex virus-1 (HSV) in corneal scrapings with high specificity but poorer sensitivity.Real time PCR can be employed to follow changes in HSV viral load in patients where resistance is suspected. SUMMARY: Delays in treatment related to misdiagnosis, as well as resistance to current antiviral therapeutics, can lead to visually devastating corneal opacification. In the pediatric population, already at risk for amblyopia, this can be especially damaging. Children are unique with regards to the way in which they manifest herpetic keratitis, making rapid diagnosis and treatment even more challenging.

Visual acuity outcomes in pediatric glaucomas.

PURPOSE: To evaluate and compare the visual acuity prognosis in the various pediatric glaucoma subtypes and to determine risk factors for vision loss. METHODS: The medical records of pediatric glaucoma patients from 2000 to 2010 at Children's Hospital of Philadelphia were retrospectively reviewed. Visual acuities, surgeries, glaucoma subtype, and etiology of vision impairment were recorded. Univariate and multivariate analyses were performed to determine the risk factors for visual impairment. RESULTS: A total of 133 eyes (36.8% primary congenital glaucoma, 28.6% aphakic glaucoma, 12.0% glaucoma associated with anterior segment dysgenesis, 12.0% Sturge-Weber glaucoma) of 88 patients were included. At last follow-up (median length, 5 years), 46.6% eyes achieved excellent (≥20/70) visual acuity. Of the glaucoma subtypes, primary congenital glaucoma conferred the best visual prognosis, with 69.4% eyes with excellent (≥20/70) visual acuity at final follow-up. Factors most associated with visual impairment (<20/200) were unilateral disease, multiple surgeries, poor vision at diagnosis, and other ocular comorbidities. The most common primary etiology for vision impairment was amblyopia (54.9%). CONCLUSIONS: Patients with glaucoma early in life appear to have a better visual acuity prognosis than previously reported, with those with primary congenital glaucoma faring better than other glaucoma subtypes. Recognition of risk factors for visual impairment can better guide clinical management and counseling of patients.

The impact of pediatric vision disorders in adulthood.

In addition to refractive errors such as myopia and astigmatism, ocular disorders that occur in infants, toddlers, and children may present lifelong problems for the child. Conditions such as strabismus, amblyopia, and retinopathy of prematurity may require adaptations in adulthood. In addition, vision disorders that occur in childhood may manifest as problems well into adulthood. When visual impairment is present, there may be further effects on overall health, self-perception, educational attainment, job choices, and a number of other social factors.

Simultaneous bilateral intraocular surgery in children.

BACKGROUND: Simultaneous bilateral intraocular surgery (SBIS), defined as sequential bilateral intraocular surgery completed in one visit to the operating room, is a controversial topic. The reluctance of ophthalmologists to perform SBIS has been mainly attributable to concerns about bilateral catastrophic complications (endophthalmitis, expulsive hemorrhage, or retinal detachment). Herein we report our experience with SBIS in children and review the literature. METHODS: The medical records of 44 patients who underwent 48 cases of SBIS between 1994 and 2009 were reviewed. Of the 48 cases, 27 were bilateral cataract extractions, 1 including intraocular lens placement; 21 were cases of bilateral glaucoma surgeries, including goniotomy, trabeculotomy, and filtering tube placement. Bilateral surgeries were performed in one session under general anesthesia with strict aseptic separation of the 2 surgeries. RESULTS: All but one of the cataract cases were performed in patients <1 year of age, and the majority (15/27) were performed in patients < or =1 month of age. Postoperative complications included aphakic glaucoma (5 patients) and reproliferation of lens material (3 patients). The majority of patients who underwent glaucoma procedures were <1 year of age (19/21), with 4 of 21 <1 month of age. One eye developed hyphema that required anterior chamber wash out. There were no catastrophic complications from the surgery or anesthesia (death, asphyxia, cardiac or respiratory arrest, or seizures) in either group. CONCLUSIONS: Simultaneous bilateral intraocular surgery was performed safely in 48 cases during a 15-year period. In selected pediatric cases requiring bilateral intraocular surgery for glaucoma or cataract, SBIS may reduce risks related to anesthesia and delayed surgery.

Amblyopia treatment: 1998 versus 2004.

PURPOSE: To determine whether there has been a change in treatment practice patterns of patients with amblyopia between the late 1990s and 2004. METHODS: A questionnaire survey was mailed to 1,200 AAPOS members listed in the 2004 AAPOS directory. Seven scenarios were presented that described patients with amblyopia and the clinician was asked to choose from six treatment options. Respondents were asked to indicate their preferred initial treatment in 1998 (or during their initial year of practice if later than 1998) and in 2004. The scenarios were not necessarily those of patients who would meet the eligibility criteria for the Amblyopia Treatment Studies because they also included scenarios to assess the impact of amblyopia treatments in general. RESULTS: Three hundred eighty-nine surveys (33.1%) were returned. In four of the seven scenarios, comments suggested that a change in practice was attributable to recent publications of Pediatric Eye Disease Investigator Group trials. In all seven scenarios, atropine would have been offered in 2004 as an alternative to patching in 1998, and in five of the seven scenarios the combination of simultaneous atropine and patching would have been prescribed. In six of the seven scenarios, some type of nonspecific near work would now be prescribed as an adjunct treatment. CONCLUSION: A change in practice patterns was observed for some, but not all, scenarios. In many scenarios, this change was directly attributed to the recent Pediatric Eye Disease Investigator Group trials.

The effects of fetal surgery on retinopathy of prematurity development.

BACKGROUND: Fetal surgery is selectively offered for severe or life-threatening fetal malformations. These infants are often born prematurely and are thus at risk for retinopathy of prematurity (ROP). It is not known whether fetal surgery confers an increased risk of developing severe ROP relative to published rates in standard premature populations ≤37 weeks of age grouped by birth weight (<1500 grams or ≥1500 grams). DESIGN: This is a retrospective chart review. METHODS: We reviewed the charts of 137 patients who underwent open fetal/fetoscopic surgery from 1996-2004. Surgical indications included twin-twin transfusion syndrome (TTTS), myelomeningocele (MMC), congenital diaphragmatic hernia (CDH), sacrococcygeal teratoma (SCT), cystic adenomatoid malformation of the lung (CCAM), and twin reversed arterial perfusion sequence (TRAP). Of these, 17 patients had local ROP examination data. Binomial tests were performed to assess whether rates of ROP in our fetal/fetoscopic surgery cohort were significantly different from published rates. RESULTS: There were 5 patients each with an underlying diagnosis of TTTS and MMC, 2 patients each with CDH and TRAP, and 1 patient each with SCT, CCAM, and mediastinal teratoma. The mean gestational age at surgery was 23(4)/7 ± 2(3)/7 weeks, mean gestational age at birth was 30 ± 2(5)/7 weeks, and mean birth weight was 1449 ± 510 grams (610-2485). Compared to published rates of ROP and threshold ROP, our fetal surgery patients had significantly higher rates of ROP and threshold ROP in both the <1500 grams and the ≥1500 grams group (all p-values < 0.05). CONCLUSIONS: Fetal/fetoscopic surgery appears to significantly increase the rate of ROP and threshold ROP development. Greater numbers are needed to confirm these observations.