Rare diseases · Sign or symptom
Retinal dystrophy
Breakdown of light-sensitive cells in back of eye
HP:0000556
What it means
Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.
Rare diseases that can present with this28
Very common80–99%
8Common30–79%
7- Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
- Cockayne syndrome
- Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome
- MORM syndrome
- Roifman syndrome
- Spastic paraplegia-severe developmental delay-epilepsy syndrome
- X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
Sometimes5–29%
10- 8p11.2deletion syndrome
- Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
- Donnai-Barrow syndrome
- Joubert syndrome with Jeune asphyxiating thoracic dystrophy
- Microcephaly-chorioretinopathy-lymphedema syndrome
- Microphthalmia with brain and digit anomalies
- Microphthalmia with linear skin defects syndrome
- Muscle-eye-brain disease with bilateral multicystic leucodystrophy
and 2 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.