Bornholm Eye Disease

This is primarily a disorder of high myopia but with additional features.  The optic nerve head is moderately hypoplastic and RPE throughout the posterior pole is said to be thinner than normal.  The males also have deuteranopia of a stationary nature and the disorder can also be considered a form of stationary cone dysfunction.  Photophobia and nystagmus are not present.  The ERG demonstrates reduced flicker function with abnormal photopic responses.  Myopia is likely congenital as it has been found in children from 1.5-5 years of age.

The original families reported with this disorder originated on the Danish island of Bornholm from which the eponym is derived.  However, a subsequent American family of Danish descent from nearby islands was found but the males were protanopes.  All affected males had a temporal conus of the optic nerve as well as thinning of the RPE in the posterior pole.  Visual acuity ranged from 20/20 to 20/40 with myopia of minus 10-18 diopters.  No macular disease was visible, no vitreous changes were seen, and none of the subjects had a retinal detachment. There was no evidence of progression in clinical signs over a period of 5 years.  The ERG showed normal scotopic rod function but cone responses were abnormal.  All carrier females and unaffected individuals had normal ERGs and color vision.