X-linked recessive ocular albinism
Findings
No curated finding names X-linked recessive ocular albinism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.
Definition from the Mondo Disease Ontology (MONDO:0021019), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked inheritance
HPO, annotations 2026-09-02
Features
15 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.
- Hypoplasia of the foveaHPOHP:0007750
- 29 of 29 reported patients
- Frequent (30% to 79% of cases)
- NystagmusHPOHP:0000639
- 29 of 29 reported patients
- Very frequent (80% to 99% of cases)
- Ocular albinismHPOHP:0001107
- 29 of 29 reported patients
- Very frequent (80% to 99% of cases)
- PhotophobiaHPOHP:0000613
- 29 of 29 reported patients
- Very frequent (80% to 99% of cases)
- Reduced visual acuityHPOHP:0007663
- 29 of 29 reported patients
- Giant melanosomes in melanocytesHPOHP:0005592
Show the remaining 3
- MyopiaHPOHP:0000545
- Occasional (5% to 29% of cases)
- Neoplasm of the skinHPOHP:0008069
- Occasional (5% to 29% of cases)
- Visual impairmentHPOHP:0000505
- Occasional (5% to 29% of cases)
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.
- GPR143HGNC:20145
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
6 names
Resolves to: X-linked recessive ocular albinism
- Also called
- Nettleship-Falls syndromeOA1ocular albinism type 1ocular albinism, Nettleship-Falls typeocular albinism, type I, Nettleship-Falls typeXLOA