This Week's Eye-Openers

JAMA Ophthalmology

A song of ice and gut

Two organs - one cell: the failed transport of neural crest cells to the iris and the colon. Hirschsprung’s disease is a congenital disorder characterized by the absence of enteric, submucosal, and myenteric ganglion cells that can cause functional bowel obstruction. It is also associated with pigmentary disorders, such as Waardenburg syndrome. Both Hirschsprung’s disease and Waardenburg syndrome are known as “neurocristopathies” – disorders caused by abnormal migration of embryonic neural crest cells. 

A 5-year old boy with a confirmed history of Hirschsprung’s disease in early life presented for routine ophthalmic evaluation. On slit-lamp examination, he was found to have bilateral sectoral iris heterochromia with patches of “ice-gray” coloration within normally pigmented irises. This case captures one of the rare settings in which combined Waardenburg’s syndrome and Hirschsprung’s disease are manifested as iris heterochromia. Ophthalmologists who diagnose iris heterochromia on slit-lamp examination should consider inquiring about a history of Hirschsprung’s disease. 

A 54-year-old male presents to the ophthalmologist for a comprehensive evaluation after recent diagnosis of type 2 diabetes. The patient reports no ocular complaints and was referred by his PCP. Visual acuity testing reveals 20/20 OU. Tonometry reveals 21 mmHg OD, 26mmHg OS. Slit lamp exam reveals clear corneas with deep and quiet anterior chambers bilaterally. Gonioscopy reveals open drainage angles with no neovascularization of iris or angle. Fundoscopy imaging of the left eye is shown in the image. What is the first-line treatment for this patient?

a. Timolol

b. Bevacizumab

c. Prednisone

d. Bimatoprost

e. Brimonidine

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