Keratoconus and Fuchs' heterochromic iridocyclitis: a coincidence or a defect during embryogenesis?

PURPOSE: We aimed to discuss the possible role of developmental embryologic factors in neural crest cells in the aetiology of keratoconus and Fuchs' heterochromic iridocyclitis by presenting this case.

CASE REPORT: We diagnosed bilateral keratoconus and unilateral Fuchs' heterochromic iridocyclitis in a 19 year old women complaining of progressively blurring vision in her left eye. We also examined most of her first and second degree relatives. One niece had FHI in addition to a choroidal nevus in the inferior temporal quadrant of her left eye.

DISCUSSION: Regarding the common embryological origins of iris stroma, uveal melanocytes and corneal stroma, it might be worth considering that the combination of FHI and keratoconus is not coincidental. A role of embryologic factors in neural crest cells in the etiology of both diseases cannot be excluded.