Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform.

Leber congenital amaurosis (LCA) and early-onset retinal degeneration (EORD) are inherited retinal diseases (IRD) characterized by early-onset vision impairment. Herein, we studied 15 Saudi families by whole exome sequencing (WES) and run-of-homozygosity (ROH) detection via AutoMap in 12/15 consanguineous families. This revealed (likely) pathogenic variants in 11/15 families (73%).

Cyclic Esotropia Managed With Botulinum A Toxin Injections: A Report of Four Cases and Literature Review.

Cyclic strabismus is a rare entity and is unique in that patients follow variable but reliable time cycles where they alternate between orthotropia or "straight" eyes and strabismus, most commonly in the form of esotropia. Despite many theories on the underlying etiology and unique features of this diagnosis, none have been proven and its pathophysiology remains unknown. Four cases of cyclic esotropia diagnosed by pediatric ophthalmologists have been included in this report.

Aberrant regeneration in an international registry of patients with 3rd-nerve palsy.

Background/aims: To describe the patterns of pre-operative aberrant regeneration and motility outcomes reported in an international registry of patients with 3-nerve palsy treated with nasal transposition of the split lateral rectus muscle (NTSLR).

Methods: This cross-sectional study used data from an international, multicentre registry of patients with 3-nerve palsy treated with NTSLR. Patients with aberrant regeneration were identified, and patterns of innervation described.

Nasal Transposition of the Split Lateral Rectus Muscle for Strabismus Associated With Bilateral 3-Nerve Palsy.

Purpose: To determine the success rate and complications associated with nasal transposition of the split lateral rectus muscle (NTSLR) for treating bilateral 3-nerve palsy.

Design: Retrospective, interventional case series.

Methods: An international, multicenter registry was used for the study.

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.

Congenital cone-rod synaptic disorder (CRSD), also known as incomplete congenital stationary night blindness (iCSNB), is a non-progressive inherited retinal disease (IRD) characterized by night blindness, photophobia, and nystagmus, and distinctive electroretinographic features. Here, we report bi-allelic RIMS2 variants in seven CRSD-affected individuals from four unrelated families. Apart from CRSD, neurodevelopmental disease was observed in all affected individuals, and abnormal glucose homeostasis was observed in the eldest affected individual.

Accuracy of formulae for secondary intraocular lens power calculations in pediatric aphakia.

Purpose: To compare the accuracy of axial length vergence formulas versus refractive vergence formulas for secondary intraocular lens (IOL) implantation in pediatric aphakia.

Methods: This retrospective comparative study, evaluated 31 eyes of 31 patients aged ≤3.5 years, who had undergone secondary IOL implantation.