Revascularization After Intravitreal Bevacizumab and Laser Therapy of Bilateral Retinal Vascular Occlusions in Incontinentia Pigmenti (Bloch-Sulzberger Syndrome).

No consensus exists for the treatment of retinopathy in incontinentia pigmenti (IP). Vascular ischemia leads to tractional retinal detachments if untreated. Ultra-widefield fluorescein angiography (FA) is used to follow the vascular status of the retina. A 13-week-old female with IP presented with bilateral retinal vascular occlusions in both eyes. Ultra-widefield FA showed reperfusion after treatment with intravitreal bevacizumab (IVB) and angiography-guided laser to the avascular retina. Anti-vascular endothelial growth factor treatment reduces neovascularization and allows for growth of retinal vessels. IVB and FA-guided laser to the avascular retina is an option in IP. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:e33-e37.].

New JAG1 Mutation Causing Alagille Syndrome Presenting With Severe Hypercholesterolemia: Case Report With Emphasis on Genetics and Lipid Abnormalities.

Context: Alagille syndrome is a rare autosomal-dominant genetic disorder caused by defects in the Notch signaling pathway, which involves multiple organ systems. Bile duct paucity is the main characteristic feature of the disease, which often leads to cholestatic hypercholesterolemia. Case Description: We report the case of a male infant who had developed failure to thrive, jaundice, intermittent pruritus, and multiple diffuse symmetrical skin xanthomas at 1 year of age. He was diagnosed with pulmonary stenosis, butterfly vertebrae of T4, T6, and T8; horseshoe kidney, and embryotoxon in the left eye. Laboratory workup revealed severe hypercholesterolemia. Alagille syndrome was suspected and confirmed by genetic testing, which identified a previously undescribed frameshift pathogenic heterozygous variant in the JAG1 gene, p.Arg486Lysfs*5. Conclusions: Here, we report a unique case of a patient diagnosed with Alagille syndrome who was found to have a previously undescribed frameshift pathogenic mutation in the JAG1 gene and who presented with xanthomatosis and levels of hypercholesterolemia more than 2 times higher than those previously reported in the literature. We also provide a review of the different pathophysiologic mechanisms associated with the increase in serum cholesterol and low-density lipoprotein cholesterol concentrations seen in cholestatic liver disease in general and in Alagille syndrome in particular.

Epiretinal membranes indicate a severe phenotype of neurofibromatosis type 2.

PURPOSE: The purpose of this study was to describe a subset of severely affected patients with neurofibromatosis type 2 (NF2), multiple central nervous system tumors, and characteristic retinal lesions. METHODS: This is a retrospective observational case series of 4 patients with NF2. The time domain-optical coherence tomography findings of three patients have previously been described in another series. RESULTS: Ophthalmic signs were identified at a mean age of 6 years, and NF2 was diagnosed at a mean age of 11 years. Patients presented with diminished visual acuity in one or both eyes and epiretinal membranes in the absence of posterior vitreous detachment. The biomicroscopic and optical coherence tomography features were distinct from secondary epiretinal membranes or combined hamartomas of the retina and retinal pigment epithelium and pathognomonic for NF2. The ophthalmic manifestations were recognized before neurologic signs and led to the diagnosis of NF2 in 3 of the 4 patients. Each patient had > or =2 central nervous system tumors at the time of diagnosis, and 3 of 4 eventually required neurosurgical interventions for symptomatic, compressive lesions at a mean age of 12 years. CONCLUSION: Recognition of epiretinal membranes with a characteristic optical coherence tomography appearance may permit early diagnosis in neurologically asymptomatic children with a severe phenotype of NF2.

Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease.

In a previous 52-wk trial, treatment with alglucosidase alpha markedly improved cardiomyopathy, ventilatory function, and overall survival among 18 children <7 mo old with infantile-onset Pompe disease. Sixteen of the 18 patients enrolled in an extension study, where they continued to receive alglucosidase alpha at either 20 mg/kg biweekly (n = 8) or 40 mg/kg biweekly (n = 8), for up to a total of 3 y. These children continued to exhibit the benefits of alglucosidase alpha at the age of 36 mo. Cox regression analyses showed that over the entire study period, alglucosidase alpha treatment reduced the risk of death by 95%, reduced the risk of invasive ventilation or death by 91%, and reduced the risk of any type of ventilation or death by 87%, compared with an untreated historical control group. Cardiomyopathy continued to improve and 11 patients learned and sustained substantial motor skills. No significant differences in either safety or efficacy parameters were observed between the 20 and 40 mg/kg biweekly doses. Overall, long-term alglucosidase alpha treatment markedly extended survival as well as ventilation-free survival and improved cardiomyopathy.