Bornholm Eye Disease

Clinical Characteristics
Ocular Features: 

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. 

Systemic Features: 

No systemic disease has been associated with this disorder. 


This is an X-linked disorder that maps to Xq28 but no gene mutation has been identified.  A form of X-linked high myopia (MYP1) (310460) maps to the same region. 

X-linked recessive, carrier mother
X-linked recessive, father affected
Treatment Options: 

No treatment is available.

Article Title: 

X-linked high myopia associated with cone dysfunction

Young TL, Deeb SS, Ronan SM, Dewan AT, Alvear AB, Scavello GS, Paluru PC, Brott MS, Hayashi T, Holleschau AM, Benegas N, Schwartz M, Atwood LD, Oetting WS, Rosenberg T, Motulsky AG, King RA. X-linked high myopia associated with cone dysfunction. Arch Ophthalmol. 2004 Jun;122(6):897-908.

PubMed ID: 

X-linked myopia: Bornholm eye disease

Schwartz M, Haim M, Skarsholm D. X-linked myopia: Bornholm eye disease. Linkage to DNA markers on the distal part of Xq. Clin Genet. 1990 Oct;38(4):281-6.

PubMed ID: 

X-linked myopia in Danish family

Haim M, Fledelius HC, Skarsholm. X-linked myopia in Danish family. Acta Ophthalmol (Copenh). 1988 Aug;66(4):450-6.

PubMed ID: 
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