Artificial Intelligence and Optical Coherence Tomography Imaging.

This review article aimed to highlight the application and use of artificial intelligence (AI) in optical coherence tomography (OCT) imaging in ophthalmology. Artificial intelligence programs seek to simulate intelligent human behavior in computers. With an abundance of patient data, especially with the advent and growing use of imaging modalities such as OCT, AI programs provide us with the unique opportunity to analyze this plethora of information and assist in making clinical decisions in the field of ophthalmology.

Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus.

Exfoliation syndrome (XFS) is a common, age-related, systemic fibrillinopathy. It greatly increases risk of exfoliation glaucoma (XFG), a major worldwide cause of irreversible blindness. Coding variants in the lysyl oxidase-like 1 (LOXL1) gene are strongly associated with XFS in all studied populations, but a functional role for these variants has not been established.

Discovery and functional annotation of SIX6 variants in primary open-angle glaucoma.

Glaucoma is a leading cause of blindness worldwide. Primary open-angle glaucoma (POAG) is the most common subtype and is a complex trait with multigenic inheritance. Genome-wide association studies have previously identified a significant association between POAG and the SIX6 locus (rs10483727, odds ratio (OR) = 1.

Developments in Ocular Genetics: Annual Review.

Purpose: The purpose of this study was to summarize major developments in ocular genetics over the past year.

Design: A literature review was performed for articles relating to the genetics of eye diseases and morphology. The search focused on articles published between September 15, 2011, and September 15, 2012.

The role of lysyl oxidase-like 1 DNA copy number variants in exfoliation glaucoma.

Purpose: To investigate whether DNA copy number variants (CNVs) in the lysyl oxidase-like 1 (LOXL1) gene are associated with exfoliation glaucoma (XFG) in black South Africans.

Methods: Black South African subjects with XFG and age-matched unaffected controls were recruited from the St. John Eye Hospital in Soweto (Johannesburg, South Africa) and East London Hospital Complex (Eastern Cape, South Africa) using standard clinical examination techniques.

Review: The role of LOXL1 in exfoliation syndrome/glaucoma.

Exfoliation syndrome is a common cause of open-angle glaucoma. It is characterized by microscopic flakes of protein-rich material being deposited in both ocular and non-ocular tissues. While its mechanism is poorly understood, family- and population-based studies have established that the disorder has a strong genetic component.

Myocilin mutations in black South Africans with POAG.

Purpose: Myocilin (MYOC) mutations are associated with primary open-angle glaucoma (POAG) in multiple populations. Here we examined the role of MYOC mutations in a black South African population with primary open-angle glaucoma (POAG).

Methods: Unrelated black South African subjects with POAG and unaffected controls were recruited from the St.

Major LOXL1 risk allele is reversed in exfoliation glaucoma in a black South African population.

Purpose: To investigate whether variants in the lysyl oxidase-like 1 (LOXL1) gene are associated with exfoliation glaucoma (XFG) and primary open-angle glaucoma (POAG) in an ancestral population from South Africa.

Methods: Black South African subjects with XFG, POAG, and age matched unaffected controls were recruited from the St. John Eye Hospital in Soweto, Johannesburg, South Africa, using standard clinical examination techniques.

Roles for Drp1, a dynamin-related protein, and milton, a kinesin-associated protein, in mitochondrial segregation, unfurling and elongation during Drosophila spermatogenesis.

Mitochondria undergo dramatic rearrangement during Drosophila spermatogenesis. In wild type testes, the many small mitochondria present in pre-meiotic spermatocytes later aggregate, fuse, and interwrap in post-meiotic haploid spermatids to form the spherical Nebenkern, whose two giant mitochondrial compartments later unfurl and elongate beside the growing flagellar axoneme. Drp1 encodes a dynamin-related protein whose homologs in many organisms mediate mitochondrial fission and whose Drosophila homolog is known to govern mitochondrial morphology in neurons.