Exceptionally elevated triglyceride in severe lipemia retinalis

PURPOSE: To report a case of successful treatment for severe lipemia retinalis with extreme severe hypertriglyceridemia (sHTG). DESIGN: Observational case report. OBSERVATIONS: A 6-week-old infant with severe lipemia retinalis manifested diffuse creamy retinal vessels complicated with vulvar xanthomas. Extreme sHTG with 185-folds of the normal level was reported. Chromosome microarray and lipid gene sequencing confirmed a homozygous lipoprotein lipase gene coding mutation. RESULTS: Under strict adherence to a high medium-chain triglycerides formula and discontinuation of breast milk, the lipemia retinalis and vulval lesions resolved along with a stable plasma lipid level throughout the follow-up period of 6 months. CONCLUSION: Strict adherence to a low-fat diet without breast milk appears to be effective in treating infants with severe lipemia retinalis associated with exceptionally high triglycerides

The Association Between Race and Diagnostic Delay of Retinoblastoma in US Children

The Association Between Race and Diagnostic Delay of Retinoblastoma in US Children Alexander K. Black1, Amanda E. Kahn2, Roberto Warman3, Noël C. Barengo4 1 Florida International University Herbert Wertheim College of Medicine, [email protected], ORCID: 0000-0003-1688-5109 2 Florida International University Herbert Wertheim College of Medicine, [email protected], ORICD: 0000-0002-8045-4576 3 Florida International University Herbert Wertheim College of Medicine, [email protected]. 4 Florida International University Herbert Wertheim College of Medicine, [email protected], ORCID: 0000-0003-0660-3091 Objective: Explore associations between race and age at diagnosis of retinoblastoma in children in the United States between 1988-2018. Methods: An analytical non-concurrent cohort study was conducted using the Surveillance, Epidemiology, and End Results (SEER) database from 1988-2018. The cohort includes children ages 0-17 diagnosed with retinoblastoma. The exposure was race and the outcome was age at diagnosis. Primary diagnosis after two years old was considered diagnostic delay. Covariates include sex, rural-urban continuum, ethnicity, decade of diagnosis, and disease laterality. Unadjusted and adjusted logistic regression analysis were performed to calculate odds ratios (OR) and 95% confidence intervals (CI). Results: In total, 747 participants met inclusion criteria. By racial group, 70.15% of participants were white, 16.33% black, 10.98% Asian/Pacific Islander and 2.54% American Indian/Alaska native. By ethnicity, 84.34% were non-Hispanic. No statistically significant associations between racial or ethnic groups and age at diagnosis compared to the non-Hispanic white control group (black OR 0.92; 95% CI 0.58-1.54, Asian/Pacific Islander OR 1.15; 95% CI 0.50-19.95, American Indian/Alaska native OR 0.61; 95% CI 0.20-1.85, Hispanic OR 0.86; 95% CI 0.52 -1.41) were found. Females were significantly more likely to be diagnosed under age two compared to males (OR 0.62; 95% CI 0.44-0.88). Conclusion: While many variables affect development of retinoblastoma, this nationwide study of US children suggests that timely identification of retinoblastoma does not differ based on race or ethnicity. Keywords: retinoblastoma, race/ethnicity, epidemiolog

Radionecrosis of optico-hypothalamic glioma

The authors report an instance of delayed radionecrosis of the chiasm in a ten-year-old girl, following radiotherapy of an optico-hypothalamic glioma, to our knowledge the first such documented case. Review of the literature of reported cases of delayed radionecrosis involving the visual pathways reveals that the time interval from completion of radiotherapy to visual loss is commonly much shorter (five to 13 months) than previously believed. The controversial issues surrounding the natural history of childhood gliomas and the role of radiotherapy are discussed and analyzed to determine more accurately the risk/benefit ratio of radiotherapy for optic gliomas

Ocular Manifestations in Pediatric Patients With Acquired Immunodeficiency Syndrome

• Forty pediatric patients seropositive for human immunodeficiency virus antibody and conforming to Centers for Disease Control, Atlanta, Ga, case definition of acquired immunodeficiency syndrome underwent ophthalmic examinations to evaluate prospectively the incidence, type, and natural history of ocular involvement in pediatric acquired immunodeficiency syndrome. A total of 87 examinations were performed on the patient population throughout the course of the study. Twenty percent had ocular findings, including two cases of cytomegalovirus retinitis, one case of isolated retinal cotton-wool spots, one case of toxoplasmosis retinochoroiditis, and three cases of external infections of adnexal structures. One patient had unusual peripheral retinal findings. The incidence of ocular manifestations in pediatric acquired immunodeficiency syndrome is considerably less than reported in several adult series. However, we recommend ophthalmic screening in all pediatric patients with acquired immunodeficiency syndrome with encephalopathy or disseminated opportunistic infections, or when symptoms suggest ophthalmic involvement

Retained subretinal date palm tree thorn in a child

A 3-year-old boy presented with severe eye pain and nausea after colliding with a date palm tree branch. Examination under anesthesia revealed a self-sealed corneal laceration and traumatic cataract in his left eye. Cultures were taken and the patient received prophylactic subconjunctival, intravitreal, and systemic antibiotics because of the high risk of endophthalmitis. A thorn from the same tree grew Bacillus cereus. Examination after 2 weeks of the injury revealed a subretinal foreign body (a palm tree thorn), although there were no signs of endophthalmitis or retinal detachment. The patient underwent cataract extraction and laser demarcation of the subretinal foreign body, which was not removed. He was fitted for an aphakic contact lens. With alternate patching, his best-corrected visual acuity improved to 20/30

Diagnosis by polymerase chain reaction of ocular posttransplant lymphoproliferative disorder after pediatric renal transplantation

To report diagnosis by polymerase chain reaction of intraocular posttransplant lymphoproliferative disorder in a pediatric renal transplant patient. Observational case report. Retrospective review. An 11-year-old girl developed infectious mononucleosis 15 months after renal transplantation for focal segmental sclerosis. Papillitis and hypopyon uveitis developed 8 months later, followed by iris nodules. Diagnosis of intraocular posttransplant lymphoproliferative disorder was made by polymerase chain reaction of aqueous humor for Epstein-Barr virus and confirmed by histopathology of an iris biopsy specimen. Infiltrating iris lymphocytes in the biopsy specimen were positive for Epstein-Barr DNA. Polymerase chain reaction also revealed gene rearrangement of the variable region of the heavy immunoglobulin chain, consistent with a monoclonal B-lymphocyte population. Iris nodules resolved with reduction in immunosuppressive medication. Polymerase chain reaction for Epstein-Barr virus may be helpful in diagnosis of intraocular posttransplant lymphoproliferative disorder

Use of Fluorescein Angiography in Incontinentia Pigmenti: A Case Report

The authors present the case of a 6-month-old female infant with a known diagnosis of incontinentia pigmenti with a normal examination by indirect ophthalmoscopy. However, fluorescein angiography revealed vascular abnormalities that were not detected by indirect ophthalmoscopy. Follow-up examination revealed progressive vascular changes that again were only detectable by fluorescein angiography. Because vision loss can cause significant morbidity in incontinentia pigmenti, the use of fluorescein angiography as an adjunctive tool with exams under anesthesia may provide invaluable information in the detection of early vascular changes in this disease