retinal dystrophy with or without macular staphyloma
MONDO:0060507Mondo
Findings
No curated finding names retinal dystrophy with or without macular staphyloma yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
9 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.
- Attenuation of retinal blood vesselsHPOHP:0007843
- 3 of 3 reported patients
- Posterior staphylomaHPOHP:0030856
- 3 of 3 reported patients
- Retinal dystrophyHPOHP:0000556
- 3 of 3 reported patients
- Retinal pigment epithelial mottlingHPOHP:0007814
- 3 of 3 reported patients
- Reduced visual acuityHPOHP:0007663
- 2 of 3 reported patients
- Spicular pigmentation of the retinaHPOHP:0007737
- 2 of 3 reported patients
- Posterior subcapsular cataractHPOHP:0007787
- 1 of 3 reported patients
- Short statureHPOHP:0004322
- 1 of 3 reported patients
- Truncal obesityHPOHP:0001956
- 1 of 3 reported patients
Where it sits
- A kind of
Other names
1 name
Resolves to: retinal dystrophy with or without macular staphyloma
- Also called
- retinal dystrophy with macular staphyloma