Rare diseases · Sign or symptom
Rod-cone dystrophy
HP:0000510
What it means
An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.
Retinitis pigmentosa is a group of hereditary diseases of the eye. However, the term retinitis pigmentosa has also been used to describe the retinal findings characteristic of these diseases but also seen on other diseases such as Usher syndrome. It is preferable to describe the findings precisely if possible, but this term is kept for convenience.
Rare diseases that can present with this43
Always100%
2Very common80–99%
8Common30–79%
10- Autosomal dominant spastic paraplegia type 10
- Brachydactyly-short stature-retinitis pigmentosa syndrome
- Classic pantothenate kinase-associated neurodegeneration
- Flynn-Aird syndrome
- Maternal uniparental disomy of chromosome 4 syndrome
- Maternal uniparental disomy of chromosome 6 syndrome
- NARP syndrome
- Pantothenate kinase-associated neurodegeneration
- Posterior column ataxia-retinitis pigmentosa syndrome
- Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
Sometimes5–29%
18- Abetalipoproteinemia
- Acute zonal occult outer retinopathy
- Ataxia-tapetoretinal degeneration syndrome
- Bothnia retinal dystrophy
- Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
- DPAGT1-CDG
- HSD10 disease, infantile type
- Isolated ATP synthase deficiency
and 10 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: Retinitis pigmentosa · Rod cone dystrophy
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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.