Ophthalmological manifestations in a diverse pediatric population with Type I and Type II Stickler syndrome.

Objective: To characterize and compare our cohorts of pediatric patients with type I and type II Sticker syndrome, with a focus on ophthalmological features.

Design: Retrospective cohort study.

Subjects: Twenty-six patients (22 families) with clinical and genetic diagnoses of types I or II Stickler syndrome.

Clinical Characteristics and Treatment Outcomes in Unilateral Coats disease - a Global Collaborative Study.

Purpose: To evaluate the clinical outcomes and prognostic factors in unilateral Coats disease in the era of anti-VEGF therapy.

Design: Global, multicenter, retrospective case series.

Subjects: 656 eyes of 656 subjects with Coats disease were included in this study.

Aggressive Onset of a Progressive FEVR Phenotype in a Child With Novel Mutations in and .

To describe a patient with familial exudative vitreoretinopathy (FEVR) and the treatment course. A case was evaluated. A 3-year-old boy presented with severe onset of FEVR, with a subhyaloid hemorrhage in 1 eye and tractional retinal detachment (TRD) in the fellow eye.

Exudative retinal detachment after laser in retinopathy of prematurity.

Treatment of retinopathy of prematurity with laser photocoagulation can be very effective in preventing future blindness, but its complications should be well understood by the ophthalmologists performing the treatment. We present the case of a 4-month-old girl in whom laser photocoagulation led to an exudative retinal detachment in both eyes. The fluid eventually resolved after treatment with topical and systemic steroids, but the effects of persistent fluid led to permanent photoreceptor loss.

Floating-Harbor syndrome with chorioretinal colobomas.

Background: We present a case of a child with Floating-Harbor Syndrome (FHS) with bilateral chorioretinal coloboma (CC). To the best of our knowledge, this is the first case report of this association. Floating- Harbor syndrome is an extremely rare autosomal dominant genetic disorder with approximately 100 cases reported.

Cutting Edge: Enhanced Antitumor Immunity in ST8Sia6 Knockout Mice.

Inhibitory receptors have a critical role in the regulation of immunity. Siglecs are a family of primarily inhibitory receptors expressed by immune cells that recognize specific sialic acid modifications on cell surface glycans. Many tumors have increased sialic acid incorporation.

Referable Macular Hemorrhage-A Clinically Meaningful Screening Target in Newborn Infants. Position Statement of the Association of Pediatric Retina Surgeons.

Universal newborn eye screening facilitates early diagnosis of ocular abnormalities and mitigates vision loss. "Referral warranted" eye disease is present at birth in about 5.5% of term infants, with "macular hemorrhage impinging on the fovea" representing about 50% of referral warranted disease.

Histone deacetylase 3 represses cholesterol efflux during CD4 T-cell activation.

After antigenic activation, quiescent naive CD4 T cells alter their metabolism to proliferate. This metabolic shift increases production of nucleotides, amino acids, fatty acids, and sterols. Here, we show that histone deacetylase 3 (HDAC3) is critical for activation of murine peripheral CD4 T cells.

Laser Prophylaxis in Patients with Stickler Syndrome.

Purpose: To evaluate the association among laser prophylaxis treatment, retinal detachment (RD), and visual acuity (VA) in patients with Stickler syndrome (SS).

Design: Retrospective comparative case series.

Participants: Patients with SS.

The mitochondrial iron transporter ABCB7 is required for B cell development, proliferation, and class switch recombination in mice.

Iron-sulfur (Fe-S) clusters are cofactors essential for the activity of numerous enzymes including DNA polymerases, helicases, and glycosylases. They are synthesized in the mitochondria as Fe-S intermediates and are exported to the cytoplasm for maturation by the mitochondrial transporter ABCB7. Here, we demonstrate that ABCB7 is required for bone marrow B cell development, proliferation, and class switch recombination, but is dispensable for peripheral B cell homeostasis in mice.

Intramolecular Ring-Opening Decomposition of Aryl Azetidines.

The ring strain present in azetidines can lead to undesired stability issues. Herein, we described a series of N-substituted azetidines which undergo an acid-mediated intramolecular ring-opening decomposition via nucleophilic attack of a pendant amide group. Studies were conducted to understand the decomposition mechanism enabling the design of stable analogues.

Multiple Evanescent White-Dot Syndrome in a 9-Year-Old Girl.

Purpose: This work describes a case of multiple evanescent white-dot syndrome (MEWDS) in a 9-year-old girl.

Methods: A case report is presented.

Results: A case of MEWDS in a 9-year-old girl is described.

Case report: A case of Norrie disease due to deletion of the entire coding region of gene.

Purpose: Norrie disease is a rare X-linked recessive vitreoretinopathy. Variants of the gene are associated with this condition. This case reports aims to demonstrate the variations of clinical presentations and exam findings of this disease.

ST8Sia6 Promotes Tumor Growth in Mice by Inhibiting Immune Responses.

Many tumors exhibit increased incorporation of sialic acids into cell-surface glycans, which impact the tumor microenvironment. Sialic acid immunoglobulin-like lectins (Siglec) are receptors that recognize sialic acids and modulate immune responses, including responses to tumors. However, the roles of individual sialyltransferases in tumorigenesis and tumor growth are not well understood.

Macular Sequelae Following Exudative Retinal Detachment After Laser Photocoagulation for Retinopathy of Prematurity.

Background And Objective: To report a series of exudative retinal detachments (ERDs) following laser photocoagulation for retinopathy of prematurity (ROP).

Patients And Methods: Retrospective case series.

Results: Eleven eyes of seven infants were identified who developed ERD following laser.

Traumatic Retinal Detachment in Patients with Self-Injurious Behavior: An International Multicenter Study.

Purpose: To describe the clinical characteristics, surgical outcomes, and management recommendations in patients with traumatic rhegmatogenous retinal detachment (RRD) resulting from self-injurious behavior (SIB).

Design: International, multicenter, retrospective, interventional case series.

Participants: Patients with SIB from 23 centers with RRD in at least 1 eye.

Late visual outcomes in infants treated with primary bevacizumab for type 1 retinopathy of prematurity.

Purpose: To describe visual acuity findings after 4 years of age in infants treated with primary bevacizumab (IVB) for type 1 retinopathy of prematurity (ROP) and to correlate structural findings on fluorescein angiography (FA) with functional outcomes.

Methods: Infants born between January 2011 and January 2014 were identified by review of the medical records. Visual acuity was measured in clinic after 4 years of age.

Cutting Edge: ST8Sia6-Generated α-2,8-Disialic Acids Mitigate Hyperglycemia in Multiple Low-Dose Streptozotocin-Induced Diabetes.

The immune system contains a series of checks and balances that maintain tolerance and prevent autoimmunity. Sialic acid-binding Ig-type lectins (Siglecs) are cell surface receptors found on immune cells and inhibit inflammation by recruiting protein tyrosine phosphatases to ITIMs. Islet-resident macrophages express Siglec-E, and Siglec-E expression decreases on islet-resident macrophages as insulitis progresses in the NOD mouse.

Late-Onset Retinal Findings and Complications in Untreated Retinopathy of Prematurity.

Purpose: To investigate late retinal findings and complications of eyes with a history of retinopathy of prematurity (ROP) that did not meet treatment criteria and did not receive treatment during infancy.

Design: Retrospective, nonconsecutive, noncomparative, multicenter case series.

Participants: Three hundred sixty-three eyes of 186 patients.

Chromatin-Modifying Enzymes in T Cell Development.

T cell development involves stepwise progression through defined stages that give rise to multiple T cell subtypes, and this is accompanied by the establishment of stage-specific gene expression. Changes in chromatin accessibility and chromatin modifications accompany changes in gene expression during T cell development. Chromatin-modifying enzymes that add or reverse covalent modifications to DNA and histones have a critical role in the dynamic regulation of gene expression throughout T cell development.

FEVR phenotype associated with septo-optic dysplasia.

: Septo-optic dysplasia, also known as de Morsier syndrome, is a disorder of brain development characterized by optic nerve hypoplasia, hypopituitarism, and midline brain defects.: Single retrospective case report.: An infant born at 38 5/7 weeks gestation age weighing 3125 g developed respiratory distress shortly after birth.