Abnormal meibum is associated with mutation and IFAP syndrome 2.

The X-linked Ichthyosis Follicularis, Alopecia, and Photophobia syndrome type 2 (IFAP2), is a condition that has been linked to an Arg527-to-Cys mutation in the gene. However, the molecular implications of the mutation in Meibomian glands remained unknown. Our goals were to elucidate the biochemical factors associated with the disease, and allow for unbiased diagnoses of the condition.

Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects.

Biallelic STX3 variants were previously reported in five individuals with the severe congenital enteropathy, microvillus inclusion disease (MVID). Here, we provide a significant extension of the phenotypic spectrum caused by STX3 variants. We report ten individuals of diverse geographic origin with biallelic STX3 loss-of-function variants, identified through exome sequencing, single-nucleotide polymorphism array-based homozygosity mapping, and international collaboration.

Acute neurotrophic keratitis with trigeminal trophic syndrome after craniotomy.

We report the case of a child who, shortly after undergoing suboccipital craniotomy for resection of a medullary cavernoma, developed corneal and conjunctival epithelial breakdown of the right eye with ipsilateral facial hypoesthesia as well as erosions and crusting of the eyelids, nostril, and lips on the right side. This combination of findings likely results from acute injury to the ipsilateral trigeminal ganglion, leading to acute neurotrophic keratitis and trigeminal trophic syndrome.

The Detection of Occult Retinal Vasculitis on Fluorescein Angiography in Pediatric Uveitis.

Purpose: To evaluate the usefulness of fluorescein angiography (FA) to detect occult retinal vasculitis in children with otherwise apparently quiescent intermediate uveitis, posterior uveitis, and panuveitis based on clinical examination alone.

Design: Retrospective chart review.

Participants: Pediatric uveitis patients evaluated at the Children's Medical Center in Dallas, Texas.

The effect of patient compliance on remission rates in pediatric noninfectious uveitis.

Purpose: To identify barriers to compliance in pediatric noninfectious uveitis, and to examine its association with achieving steroid-free remission.

Methods: A retrospective analysis was performed on pediatric patients with noninfectious uveitis on immunomodulatory therapy treated at the University of Texas Southwestern Medical School and Children's Medical Center (Dallas, TX) between September 2015 and March 2017. Compliance barriers were identified and rates of achieving steroid-free remission were calculated.

Successful treatment with infliximab after adalimumab failure in pediatric noninfectious uveitis.

Purpose: To describe the use of infliximab after adalimumab failure in the treatment of pediatric noninfectious uveitis.

Methods: A retrospective analysis was performed on the medical records of pediatric patients with noninfectious uveitis treated with infliximab for a minimum of 6 months after previously failing to achieve steroid-free remission using adalimumab at the University of Texas Medical School and Children's Medical Center between September 2015 and March 2018. Rates of achieving disease activity quiescence and steroid-free remission as well as incidence of adverse events were calculated.

A Clinical Trial Comparing the Safety and Efficacy of Topical Tacrolimus versus Methylprednisolone in Ocular Graft-versus-Host Disease.

Purpose: To evaluate the safety and efficacy of topical tacrolimus 0.05% versus topical methylprednisolone 0.5% in patients with ocular graft-versus-host disease (GVHD).

Prevalence of ocular hypertension and glaucoma in patients with chronic ocular graft-versus-host disease.

Purpose: To evaluate the prevalence of ocular hypertension (OHT) and glaucoma in patients with chronic ocular graft-versus-host disease (GVHD).

Methods: We performed a retrospective chart review of 218 patients diagnosed with chronic ocular GVHD. Ocular hypertension was defined as intraocular pressure (IOP) ≥ 24 mmHg in either eye without any glaucomatous optic disc changes.

Overestimation of Corneal Endothelial Cell Density in Smaller Frame Sizes in In Vivo Confocal Microscopy.

Purpose: To evaluate the effect of frame size on the calculated corneal endothelial cell density (CECD) in images of laser scanning in vivo confocal microscopy (IVCM).

Methods: Forty-nine corneal endothelial images acquired by laser scanning IVCM (Heidelberg Retina Tomograph 3 with Rostock Corneal Module) with different endothelial cell densities were analyzed. In each image (160,000 μm), the CECD was calculated using the fixed-frame method by counting cells in the following frame sizes: 80,000 μm, 40,000 μm, 20,000 μm, 10,000 μm, 5000 μm, and 2500 μm.

Multidetector Computed Tomography Features in Differentiating Exophytic Renal Angiomyolipoma from Retroperitoneal Liposarcoma: A Strobe-Compliant Observational Study.

This study aims to evaluate the multidetector computed tomography (CT) imaging features in differentiating exophytic renal angiomyolipoma (AML) from retroperitoneal liposarcoma. We retrospectively enrolled 42 patients with confirmed exophytic renal AML (31 patients) or retroperitoneal liposarcoma (11 patients) during 8 years period to assess: renal parenchymal defect at site of tumor contact, supply from branches of renal artery, tumoral vessel extending through the renal parenchyma, dilated intratumoral vessels, hemorrhage, non-fat-containing intratumoral nodules with postcontrast enhancement, calcification, renal sinus enlargement, anterior displacement of kidneys, and other associated AML. Renal parenchymal defect, renal arterial blood supply, tumoral vessel through the renal parenchyma, dilated intratumoral vessels, intratumoral/perirenal hemorrhage, renal sinus enlargement, and associated AML were seen only or mainly in exophytic renal AML (all P value < 0.

Vision-Related Quality of Life in Patients with Ocular Graft-versus-Host Disease.

Purpose: To assess the vision-related quality of life (QOL) in a cohort of patients with ocular graft-versus-host disease (GVHD).

Design: Prospective study.

Participants: Eighty-four patients diagnosed with chronic ocular GVHD.

Reduced Corneal Endothelial Cell Density in Patients With Dry Eye Disease.

Purpose: To evaluate corneal endothelial cell density (ECD) in patients with dry eye disease (DED) compared to an age-matched control group.

Design: Cross-sectional, controlled study.

Methods: This study included 90 eyes of 45 patients with moderate to severe DED (aged 53.

Outcomes of phacoemulsification in patients with chronic ocular graft-versus-host disease.

Purpose: The purpose of this study was to evaluate the outcomes of phacoemulsification in patients with ocular graft-versus-host disease (GVHD).

Methods: The occurrence of cataracts, cataract surgery, and its outcomes were analyzed in the medical records of 229 patients (458 eyes) with ocular GVHD. Outcome measures included pre- and postoperative corrected distance visual acuity (CDVA) and the rate of postoperative complications.

Bilateral corneal ulceration in ocular graft-versus-host disease.

Purpose: To report on corneal ulceration in ocular graft-versus-host disease (GVHD).

Methods: This was a retrospective, observational case series investigating corneal ulceration and perforation in a cohort of ocular GVHD patients seen between June 2007 and October 2012.

Results: Four of 243 ocular GVHD patients developed corneal ulcerations attributable to ocular GVHD, and all four cases involved bilateral corneal ulceration.

Risk factors associated with the relapse of uveitis in patients with juvenile idiopathic arthritis: a preliminary report.

Purpose: To identify risk factors associated with relapse of uveitis in patients with recurrent uveitis associated with juvenile idiopathic arthritis (JIA) after treatment with immunomodulatory therapy (IMT) and durable remission of 1 year.

Methods: The medical records of 30 patients with JIA-associated uveitis who were successfully treated with IMT to a state of corticosteroid-free remission and subsequently remained in remission after discontinuation of IMT for a period of at least 1 year were retrospectively reviewed. In subsequent follow-up, some patients had relapse of uveitis, whereas others continued to be in remission.

Use of intravitreal rituximab for treatment of vitreoretinal lymphoma.

Aim: Vitreoretinal lymphoma is a diffuse large B cell non-Hodgkin lymphoma. Targeting malignant cells with rituximab is being used increasingly as local chemotherapy, but information on this treatment is scant. We aimed to describe current therapeutic approaches, as well as responses to and complications of, intravitreal rituximab in patients with vitreoretinal lymphoma.

Demographic and clinical profile of vernal keratoconjunctivitis at a tertiary eye care center in India.

Purpose: To study the demographic and clinical profile of patients with vernal keratoconjunctivitis (VKC) at a tertiary eye care center in India.

Materials And Methods: Retrospective chart analysis of 468 patients of VKC seen from January 2006 to December 2006.

Results: Mean age at presentation was 12 years.

Clinical and Cytologic Evidence of Limbal Stem Cell Deficiency in Eyes With Long-Standing Vernal Keratoconjunctivitis.

Purpose: We aimed to study the impression cytology (IC) of the ocular surface in eyes with vernal keratoconjunctivitis (VKC) and clinical evidence of limbal stem cell deficiency (LSCD).

Design: This is a prospective comparative study.

Methods: This study included 78 eyes of 40 patients with VKC.

Management, clinical outcomes, and complications of shield ulcers in vernal keratoconjunctivitis.

Purpose: To assess the clinical outcomes and complications of shield ulcers by various treatment methods.

Design: Retrospective, interventional case series.

Methods: setting: Cornea and anterior segment service of L.