X-linked retinoschisis
MONDO:0010725Mondo
Findings
No curated finding names X-linked retinoschisis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration.
Definition from the Mondo Disease Ontology (MONDO:0010725), read 2026-09-29. CC BY 4.0.
Features
18 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.
- Mizuo phenomenonHPOHP:0030824
- 4 of 4 reported patients
- Occasional (5% to 29% of cases)
- Abnormal electroretinogramHPOHP:0000512
- Very frequent (80% to 99% of cases)
- Abnormality of eye movementHPOHP:0000496
- Very frequent (80% to 99% of cases)
- Abnormality of visionHPOHP:0000504
- Very frequent (80% to 99% of cases)
- GlaucomaHPOHP:0000501
- Very frequent (80% to 99% of cases)
- Progressive visual lossHPOHP:0000529
- Very frequent (80% to 99% of cases)
- RetinoschisisHPOHP:0030502
- Very frequent (80% to 99% of cases)
- Abnormal foveal morphologyHPOHP:0000493
- Frequent (30% to 79% of cases)
- ERG: Reduced dark-adapted b-wave amplitudeHPOHP:0007984
- Frequent (30% to 79% of cases)
- Hyperautofluorescent retinal lesionHPOHP:0025158
- Frequent (30% to 79% of cases)
- Macular atrophyHPOHP:0007401
- Frequent (30% to 79% of cases)
- Retinal pigment epithelial atrophyHPOHP:0007722
- Frequent (30% to 79% of cases)
Show the remaining 6
- Vitreous hemorrhageHPOHP:0007902
- 26 of 86 reported patients
- Frequent (30% to 79% of cases)
- Absent foveal reflexHPOHP:0030825
- Occasional (5% to 29% of cases)
- NyctalopiaHPOHP:0000662
- Occasional (5% to 29% of cases)
- Retinal detachmentHPOHP:0000541
- 26 of 86 reported patients
- Occasional (5% to 29% of cases)
- StrabismusHPOHP:0000486
- Occasional (5% to 29% of cases)
- HypermetropiaHPOHP:0000540
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.
- RS1HGNC:10457
- Definitive · Ambry Genetics · X-linked · 2018
- Definitive · ClinGen · X-linked · 2020
- Definitive · Myriad Women's Health · X-linked · 2018
- Definitive · Natera · X-linked recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
6 names
Resolves to: X-linked retinoschisis
- Also called
- juvenile X-linked retinoschisisretinoschisis, X-linkedretinoschisis, X-linked recessiveX-linked juvenile retinoschisisX-linked juvenile retinoschisis type 1XLRS