Quiz: Small Eyes & Nystagmus

A 3-year-old boy presented with small eyes and nystagmus. His best-corrected visual acuity is 0.1 (20/200) in both eyes. Horizontal corneal diameters were 7mm bilaterally. Slit-lamp examination showed a 360-degree symmetric iris remnant of approximately 2mm in each eye, mild cortical and posterior subcapsular cataract, and some vitreous coming around the lens into the anterior chamber. There was also a 45 prism diopter comitant esotropia. Fundus examination was normal. He had syndactyly between the 4th and 5th fingers of both hands and received surgery for this early in childhood. Sparse hair, dental caries and a thin nose were also noted. A diagnosis of oculodentodigital dysplasia was made. Other systemic examinations, including cardiac and renal echo, were normal. His mother is normal but his father also has small eyes, a thin nose, and multiple dental caries but has normal fingers and toes. What could be happening?

 

Last Updated: September 12, 2022

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