Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.

Purpose: Inherited retinal diseases (IRDs) are a group of monogenic conditions that can lead to progressive blindness. Their missing heritability is still considerable, due in part to the presence of disease genes that await molecular identification. The purpose of this work was to identify novel genetic associations with IRDs.

The 100 most cited papers on amblyopia: a bibliographic perspective.

Aim: To analyze the top 100 most cited papers related to amblyopia.

Methods: A bibliographic search in the Institute for Scientific Information Web of Knowledge across 55 years was performed.

Results: Eighty-nine of the 100 papers were published in first-quartile journals.

A large population study reveals a novel association between congenital color vision deficiency and environmental factors.

Purpose: To assess the associations between the prevalence of congenital color vision deficiency (CVD) and genetics and environment, represented by place of origin (ethnic background) and place of birth, respectively.

Methods: This is a retrospective study of the computerized database of the northern recruitment center of Israel of 53,895 consecutive male Jewish conscripts 16-19 years old, who completed the medical profiling process between 1988 and 2011. CVD was diagnosed using the 24-pseudo-isochromatic plate Ishihara test.

Screening for Myopia-Related Retinal Changes Among Teenagers.

Background And Objective: To evaluate the relationship between spherical equivalent (SE) refractive error and myopia-related peripheral retinal changes (MPRCs) and to find the optimal cutoff for screening myopic teenagers.

Patients And Methods: The study included 2,286 myopic subjects who had a dilated fundus examination between 1998 and 2011 and SE of -4.0 diopters (D) or higher in both eyes.

PRCD is concentrated at the base of photoreceptor outer segments and is involved in outer segment disc formation.

Mutations of the photoreceptor disc component (PRCD) gene are associated with rod-cone degeneration in both dogs and humans. Prcd is expressed in the mouse eye as early as embryonic day 14. In the adult mouse retina, PRCD is expressed in the outer segments of both rod and cone photoreceptors.

Verifying complaints of difficulties in night vision using electroretinography and dark adaptation tests.

Purpose: To determine the electroretinographical and psychophysical parameters that can help to verify patients' complaints of reduced night vision.

Methods: We tested 275 consecutive patients with normal appearing fundi, complaining of visual difficulties at night, using flash electroretinography (ERG) and dark adaptation (DA) test. Two ERG parameters were used to assess a scotopic retinal function: the amplitude of the response to dim blue flash (the rod response) and the b-wave ratio (measured/expected).

Hydration of small leaking corneal perforations with cefuroxime.

Purpose: To describe a new technique for sealing small corneal perforations after penetrating trauma.

Methods: Corneal perforations in six eyes were sealed using a stromal cefuroxime hydration technique. This technique is identical to the current method used to seal leaking incisions upon completion of cataract surgery except for the use of cefuroxime instead of balanced salt solution.

Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population.

Inherited retinal diseases (IRDs) are heterogeneous phenotypes caused by variants in a large number of genes. Disease prevalence and the frequency of carriers in the general population have been estimated in only a few studies, but are largely unknown. To this end, we developed two parallel methods to calculate carrier frequency for mutations causing autosomal-recessive (AR) IRDs in the Israeli population.

Publication outcome of abstracts submitted to the American Academy of Ophthalmology meeting.

Objective: Abstracts submitted to meetings are subject to less rigorous peer review than full-text manuscripts. This study aimed to explore the publication outcome of abstracts presented at the American Academy of Ophthalmology (AAO) annual meeting.

Methods: Abstracts presented at the 2008 AAO meeting were analyzed.

A SEMA3E mutant resistant to cleavage by furins (UNCL-SEMA3E) inhibits choroidal neovascularization.

Abnormal subretinal choroidal neovascularization (CNV) is a major cause of blindness in exudative age-related macular degeneration (AMD). Current anti-angiogenic treatments by VEGF sequestering agents have been successful, but a significant proportion of patients do not respond well to these treatments, and the response of others diminishes over time, suggesting that additional anti-angiogenic agents that function by separate mechanisms may be of use to such patients. We have previously found that a point mutated form of semaphorin-3E resistant to cleavage by furin like pro-protein convertases (UNCL-Sema3E) displays potent anti-angiogenic properties.

The role of computed tomography in the immediate workup of open globe injury.

Purpose: Immediate primary closure is indicated in cases of traumatic open globe injury. Orbital computed tomography (CT) is performed prior to primary closure in order to rule out possible intraocular foreign bodies (IOFB) and/or damage to adjacent extraocular as well as intraocular structures. The aim of the present study is to evaluate the yield of orbital CT scan in immediate clinical decision-making in cases of open globe injury.