Rare diseases · Sign or symptom
Pigmentary retinopathy
HP:0000580
What it means
An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.
Rare diseases that can present with this38
Common30–79%
15- Bothnia retinal dystrophy
- Classic pantothenate kinase-associated neurodegeneration
- Congenital bile acid synthesis defect type 4
- Hardikar syndrome
- Infantile nephropathic cystinosis
- Kjellin syndrome
- Maternal uniparental disomy of chromosome 4 syndrome
- Methylmalonic acidemia with homocystinuria, type cblC
- Mitochondrial DNA-associated Leigh syndrome
- Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
- Pantothenate kinase-associated neurodegeneration
- Posterior column ataxia-retinitis pigmentosa syndrome
- Sjögren-Larsson syndrome
- Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
- Wagner disease
Sometimes5–29%
14- Acute zonal occult outer retinopathy
- Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
- Ataxia-tapetoretinal degeneration syndrome
- Bietti crystalline dystrophy
- Congenital muscular dystrophy with intellectual disability
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- MELAS
- Mitochondrial trifunctional protein deficiency
and 6 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
Also called: Pigmentary retinal deposits · Retinal pigment clumping · Retinal pigmentary clumping · Retinal pigmentary degeneration
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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.