An adolescent boy was referred for a routine eye examination with the following medical history: coarctation of the aorta, aortic stenosis, cerebellar hemorrhage, hydrocephalus treated with ventriculoperitoneal shunt, scoliosis due to hemivertebrae, congenital diaphragmatic and umbilical hernia, and hearing loss. Physical examination showed short stature (height in the third percentile) with mild muscle wasting in both lower extremities. Visual acuity was 20/30 OU. He had an esotropia of 30 prism diopters with mild bilateral inferior oblique muscle overaction. External examination showed hypertelorism, bilateral upper eyelid ptosis, and a broad nasal bridge. Slitlamp biomicroscopy disclosed bilateral posterior embryotoxon, iris stromal hypoplasia, and translucent strands extending from the inferior segment of the iris toward the cornea in both eyes, with right corectopia (Figure, A). Intraocular pressures (IOPs) were 11 mm Hg OD and 10 mm Hg OS. Situs inversus of the optic discs and a cup-disc ratio of 0.2 in both eyes was noted. Results of the retinal examination were otherwise normal. SITA (Swedish Interactive Thresholding Algorithm) 24-2 visual field revealed superior arcuate defects in both eyes. Optical coherence tomography (OCT) showed mild peripapillary retinal nerve fiber layer thinning inferiorly in both eyes. Magnetic resonance imaging of the brain disclosed dysgenesis of the left cerebellar hemisphere and vermis (Figure, B). Family history and examination of other family members disclosed no similar abnormalities.
Torrado LA, Ho ML, Brodsky MC. Posterior Embryotoxon, Corectopia, and Cerebellar Dysgenesis. JAMA Ophthalmol. 2018;136(9):1062–1063. doi:10.1001/jamaophthalmol.2018.0101
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