Aland island eye disease
Findings
No curated finding names Aland island eye disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.
Definition from the Mondo Disease Ontology (MONDO:0010371), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked inheritance
HPO, annotations 2026-09-02
Features
12 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AstigmatismHPOHP:0000483
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Fundus hypopigmentationHPOHP:0007894
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Hypoplasia of the foveaHPOHP:0007750
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- MyopiaHPOHP:0000545
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- ProtanopiaHPOHP:0011522
- 6 of 6 reported patients
- Severely reduced visual acuityHPOHP:0001141
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CACNA1FHGNC:1393
- Definitive · G2P · X-linked · 2017
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
3 names
Resolves to: Aland island eye disease
- Also called
- AIEDForsius-Eriksson syndromeFORSIUS-Eriksson type ocular albinism