To cite: Wang J-K, Huang T-L. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2015210558 DESCRIPTION A 10-year-old girl presented with blurred vision in her right eye since birth. Birth, developmental and medical histories were otherwise unremarkable. Her best corrected visual acuity was 20/30 and 20/20 in the right and left eyes, respectively, with bilateral mild...

A 42-year-old woman was admitted to our clinic with a complaint of glare in both eyes. Biomicroscopic examination of both the eyes revealed iris and lens colobomas in the inferior quadrant. Fundus examination of the right eye revealed an oval and gray inferotemporal optic pit and two choroid colobomas in the inferior quadrant. In the left eye, two choroid colobomas were detected that were infer...

A 27-year-old woman presented with a history of long-standing poor vision in both eyes. Ophthalmologic examination after pupillary dilatation revealed bilateral lens coloboma situated in the inferotemporal quadrant. No associated ocular abnormalities were seen, except amblyopia. A bicuspid aortic valve was observed during echocardiography during systemic evaluation. Lens coloboma usually occurs...

PURPOSE We reported the clinical and echographic features of colobomas, prevalence of retinal detachment, and associated visual acuity in these patients. METHODS The study is a nonrandomized consecutive case series of 140 colobomatous eyes in 98 patients (age range, 0-83 years). Coloboma depth, width, volume, and relative coloboma excavation (coloboma depth/axial length) were measured using s...

Takkar B, et al. BMJ Case Rep 2017. doi:10.1136/bcr-2017-221967 Description A 6-year-old boy presented as a known case of developmental glaucoma and was using topical travoprost in the right eye (RE) since 1 year. Highest recorded intraocular pressure (IOP) was 24 mm Hg in RE, whereas central corneal thickness was 540 μm. Visual acuity was 6/6 in both eyes. On examination, the anterior segment ...

Purpose North Carolina macular dystrophy (NCMD) is an autosomal dominant, congenital disorder affecting the central retina. Here, we report clinical and genetic findings in three families segregating NCMD use epigenomic datasets from human tissues to gain insights into effect of NCMD-implicated variants. Methods Clinical assessment testing were performed. Publicly available transcriptomic analy...

Attention deficit hyperactivity disorder (ADHD) is characterized by hyperactivity, inattention, and impulsivity. The coloboma mouse model of ADHD exhibits profound hyperactivity. To determine whether coloboma mice exhibit other signs of ADHD, we assessed latent inhibition as a test of attention, and impulsivity in a delayed reinforcement paradigm. Latent inhibition was present in control mice b...