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Åland Islands eye disease

ORPHA:178333· ICD-10 H35.5

Definition

An X-linked recessive retinal disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.

Prevalence
<1 / 1 000 000
Inheritance
X-linked recessive
Age of onset
Infancy, Neonatal