Ocular albinism, type II- MedGen UID:
- 120643
- •Concept ID:
- C0268505
- •
- Disease or Syndrome
Aland Island eye disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, protan color vision defect (303900), progressive myopia, and defective dark adaptation. Although AIED has been referred to as a form of albinism, there is no misrouting of the optic nerves, which excludes it from the formal diagnosis of classic albinism (King et al., 2001).
X-linked cone dysfunction syndrome with myopia- MedGen UID:
- 463611
- •Concept ID:
- C3159311
- •
- Disease or Syndrome
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).