Rare diseases · Sign or symptom
Retinopathy
Noninflammatory retina disease
HP:0000488
What it means
Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.
Rare diseases that can present with this50
Very common80–99%
12- Adult Refsum disease
- Chylomicron retention disease
- Combined oxidative phosphorylation defect type 29
- EEM syndrome
- Encephalocraniocutaneous lipomatosis
- Griscelli syndrome type 1
- Methylmalonic acidemia with homocystinuria
- Monosomy 9q22.3 syndrome
- Mucolipidosis type IV
- Pseudoxanthoma elasticum
- Sialidosis type 1
- Xeroderma pigmentosum-Cockayne syndrome complex
Common30–79%
11- Cystinosis
- Homocystinuria without methylmalonic aciduria
- Hurler syndrome
- Isolated permanent neonatal diabetes mellitus
- Mucopolysaccharidosis type 1
- Mucopolysaccharidosis type 2
- Neovascular glaucoma
- Primary hyperoxaluria
- Severe hereditary thrombophilia due to congenital protein S deficiency
- Sickle cell anemia
- Stickler syndrome type 2
Sometimes5–29%
23- 20p13microdeletion syndrome
- ALG8-CDG
- Autosomal recessive spastic paraplegia type 48
- Behçet disease
- Blau syndrome
- Danon disease
- DPM1-CDG
- Familial hyperaldosteronism type I
and 15 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.