Insights into the genotype-phenotype relationship of ocular manifestations in Kabuki syndrome.

We aim to assess if genotype-phenotype correlations are present within ocular manifestations of Kabuki syndrome (KS) among a large multicenter cohort. We conducted a retrospective, medical record review including clinical history and comprehensive ophthalmological examinations of a total of 47 individuals with molecularly confirmed KS and ocular manifestations at Boston Children's Hospital and Cincinnati Children's Hospital Medical Center. We assessed information regarding ocular structural, functional, and adnexal elements as well as pertinent associated phenotypic features associated with KS.

Torsional incomitance after asymmetrically adjusted Harada-Ito procedures for the simultaneous correction of vertical and torsional deviations in bilateral trochlear nerve palsy.

Background: Adjustable bilateral Harada-Ito procedures have been described, sometimes with asymmetric adjustment used to correct vertical misalignment when coexisting with torsional strabismus. We investigated the causes of significant postoperative torsional incomitance noted in some patients undergoing these procedures.

Methods: The medical records of patients who underwent bilateral Harada-Ito procedures for bilateral trochlear nerve palsy between 1980 and 2018 were reviewed retrospectively.

A novel variant in the gene-presenting as unilateral myopia, pediatric cataract, and heterochromia in a patient with familial exudative vitreoretinopathy.

Purpose: To report a case of 16-month-old boy with a novel variant TSPAN12 gene-presenting as unilateral myopia, pediatric cataract, and heterochromia in a patient with familial exudative vitreoretinopathy.

Observation: A 16-month-old otherwise healthy boy was referred to Boston Children's Hospital for evaluation of strabismus. Ocular examination revealed intermittent esotropia, left hypotropia, and limited left eye elevation in both adduction and abduction.

Optical Coherence Tomography Angiography in Prematurity.

: During normal foveal development there is a close interaction between the neurosensory and vascular elements of the fovea making it vulnerable to prematurity and retinopathy of prematurity (ROP). We aim to assess this potential effect on foveal development in preterms evaluated simultaneously with both optical coherence tomography (OCT) and OCT angiography (OCTA).: Unrestricted literature search in the PubMed and Cochrane library databases yielded 20 distinct citations.