Ophthalmic midline dysgenesis in Kallmann syndrome

Partial coloboma, observed only with transillumination techniques, occur in 16% of male patients diagnosed with Kallmann syndrome. This sign represents an additional midline defect in this multisystem disorder noted for midline dysgenesis. Its high incidence may be helpful in the diagnosis of this disorder although it does not appear to be the harbinger of any other ocular abnormality.