AMNIOTIC MEMBRANE GRAFTING FOR A CASE OF BILATERAL GIANT FULL-THICKNESS MACULAR HOLE IN ALPORT SYNDROME AFTER CATARACT SURGERY.

Purpose: The purpose of this study was to describe the surgical management of bilateral giant full-thickness macular hole with sudden onset two months after cataract surgery in a patient with Alport syndrome.

Methods: This was an observational, single-case report.

Results: A 54-year-old woman with a history of Alport syndrome presented with severe bilateral visual loss two months after cataract surgery.

Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation.

Inflammasome complexes function as key innate immune effectors that trigger inflammation in response to pathogen- and danger-associated signals. Here, we report that germline mutations in the inflammasome sensor NLRP1 cause two overlapping skin disorders: multiple self-healing palmoplantar carcinoma (MSPC) and familial keratosis lichenoides chronica (FKLC). We find that NLRP1 is the most prominent inflammasome sensor in human skin, and all pathogenic NLRP1 mutations are gain-of-function alleles that predispose to inflammasome activation.

Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis.

Background: Corneal intraepithelial dyskeratosis is an extremely rare condition. The classical form, affecting Native American Haliwa-Saponi tribe members, is called hereditary benign intraepithelial dyskeratosis (HBID). Herein, we present a new form of corneal intraepithelial dyskeratosis for which we identified the causative gene by using deep sequencing technology.

Correlation between epithelial ingrowth and basement membrane remodeling in human corneas after laser-assisted in situ keratomileusis.

Objective: To further investigate the hypothesis that epithelial ingrowth in human corneas after laser-assisted in situ keratomileusis (LASIK) correlates with basement membrane remodeling, as suggested by the presence of matrix metalloproteinase 9 around epithelial cells in the lamellar scar.

Methods: Immunohistochemical analysis and transmission electron microscopy were applied to human postmortem corneas with post-LASIK epithelial ingrowth.

Results: Epithelial ingrowth into the flap margin was observed in 8 of 18 corneas (44%).

Esotropias that totally resolve under general anesthesia treated exclusively with bilateral fadenoperation.

Purpose: Fadenoperation has been proven to be an efficient method to treat convergence excess because it treats medial rectus (MR) overaction. We wanted to evaluate its efficiency in esotropias that totally disappear under anesthesia, regardless of the amount of deviation in waking hours.

Methods: Included were 122 successive cases of children of ages 3 to 16 years with esotropia that completely disappears under general anesthesia (GA), representing 26.

Correlations of long-term matrix metalloproteinase localization in human corneas after successful laser-assisted in situ keratomileusis with minor complications at the flap margin.

Objective: To determine whether matrix metalloproteinases (MMPs) are present long-term in human corneas after successful laser-assisted in situ keratomileusis (LASIK).

Methods: Eighteen postmortem corneas from 10 patients with postoperative intervals of 2 to 8 years after LASIK surgery and 4 normal control corneas from 2 patients were collected from US eye banks and processed for histologic analysis and immunolocalization with antibodies to MMP-1, MMP-2, MMP-3, MMP-7, MMP-8, MMP-9, MMP-10, and MMP-14.

Results: Matrix metalloproteinase 7 was present in the epithelium of all corneas.