Rare diseases · Sign or symptom
Abnormal retinal pigmentation
HP:0007703
What it means
Any deviation from the normal pigmentation of the retina.
This includes abnormalities of the pigmentation of the RPE and intraretinal pigment migration. 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 neuroretina; 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 this84
Very common80–99%
34- Adult Refsum disease
- Aicardi syndrome
- Aplasia cutis-myopia syndrome
- Atypical Werner syndrome
- Autosomal recessive chorioretinopathy-microcephaly syndrome
- Cartilage-hair hypoplasia
- Cerebellar ataxia-hypogonadism syndrome
- Cerebellar hypoplasia-tapetoretinal degeneration syndrome
- Choroidal atrophy-alopecia syndrome
- Choroideremia
- Cockayne syndrome
- Cone rod dystrophy
- Congenital toxoplasmosis
- Diprosopus
- EEM syndrome
- Holoprosencephaly-craniosynostosis syndrome
- Jalili syndrome
- Leber congenital amaurosis
- Morning glory disc anomaly
- Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
- Oculocutaneous albinism type 1B
- Oculocutaneous albinism type 4
- Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
- Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
- Progressive cone dystrophy
- Retinal degeneration-nanophthalmos-glaucoma syndrome
- Retinitis pigmentosa
- Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
- Senior-Loken syndrome
- Severe oculo-renal-cerebellar syndrome
- Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
- Tricho-retino-dento-digital syndrome
- Usher syndrome
- Vici syndrome
Common30–79%
22- Abetalipoproteinemia
- Aceruloplasminemia
- Autosomal dominant drusen
- Blindness-scoliosis-arachnodactyly syndrome
- Chédiak-Higashi syndrome
- Congenital rubella syndrome
- Desmoid tumor
- Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
- Juvenile Paget disease
- Lowry-Wood syndrome
- Microcephaly-chorioretinopathy-lymphedema syndrome
- Microphthalmia with linear skin defects syndrome
- Micro syndrome
- Multiple sulfatase deficiency
- Neonatal adrenoleukodystrophy
- Nephronophthisis
- Night blindness-skeletal anomalies-dysmorphism syndrome
- Oculocutaneous albinism type 2
- Prolidase deficiency
- Ramon syndrome
- Severe early-childhood-onset retinal dystrophy
- Werner syndrome
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: Abnormality of retinal pigment epithelium · Abnormality of retinal pigmentation · Abnormality of RPE · Abnormality of the retinal pigment epithelium · Retinal pigmentary anomaly
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
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.