Intraocular pressure at different gaze positions in patients with highly myopic strabismus.

Purpose: To evaluate intraocular pressure (IOP) at different gaze positions in patients with highly myopic strabismus (HMS).

Study Design: Nonrandomized, prospective, observational study.

Methods: This study included 18 eyes of 14 patients with HMS and 51 eyes of 51 age-matched controls without strabismus; these were further divided into two groups based on refractive errors: > -6.

Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism.

Incontinentia pigmenti (IP) is an X-linked dominant genodermatosis that is usually lethal in utero in males, though exceptionally they survive very rarely either with Klinefelter syndrome or a somatic mosaicism. We performed genomic analysis of five Japanese IP patients including a rare boy case, all of whom were definite cases with retinopathy. Four patients including the boy revealed the recurrent exon 4-10 deletion in the sole known causative gene IKBKG/NEMO, which was confirmed by various specific PCR techniques.

A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel frameshift and known missense variants.

We analyzed two siblings in a Japanese family with delayed onset cone-rod dystrophy (CRD) using whole-exome sequencing. A novel frameshift c.1106dup (p.