X-linked cone dysfunction syndrome with myopia

General Information (adopted from Orphanet):

Synonyms, Signs: MYOPIA, HIGH, WITH NONPROGRESSIVE CONE DYSFUNCTION
BED
Bornholm eye disease
Number of Symptoms 12
OrphanetNr: 90001
OMIM Id: 300843
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 10 families [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic myopia
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000609) Optic nerve hypoplasia 26 / 7739
2
 (HPO:0011521) Deuteranopia 1 / 7739
3
 (HPO:0000654) Decreased light- and dark-adapted electroretinogram amplitude 17 / 7739
4
 (HPO:0000483) Astigmatism 67 / 7739
5
 (HPO:0000646) Amblyopia 42 / 7739
6
 (HPO:0011522) Protanopia 2 / 7739
7
 (HPO:0007703) Abnormality of retinal pigmentation 21 / 7739
8
 (HPO:0011003) Severe Myopia 31 / 7739
9
 (OMIM) Myopia, high-grade 3 / 7739
10
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
11
 (OMIM) Retinal pigment abnormalities 1 / 7739
12
 (OMIM) Reduced electroretinographic (ERG) flicker 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Bornholm eye disease consists of X-linked high myopia, amblyopia, and deuteranopia. Associated signs include optic nerve hypoplasia, reduced electroretinographic (ERG) flicker, and nonspecific retinal pigment abnormalities (Schwartz et al., 1990).
Clinical Description OMIM Haim et al. (1988) described a large Danish family with X-linked myopia combined with astigmatism, impaired vision, and moderate hypoplasia of the optic nerve heads. Deuteranopia (303800) was present in all affected males. Myopia was diagnosed at 1.5 ...
Molecular genetics OMIM Michaelides et al. (2005) performed molecular analysis of the opsin gene array in 4 British families with an X-linked cone dysfunction syndrome with myopia and protanopia. Two families had a long/middle hybrid gene and 1 family had the ...