Rare diseases · Sign or symptom
Progressive visual loss
Progressive loss of vision
HP:0000529
What it means
A reduction of previously attained ability to see.
Rare diseases that can present with this35
Very common80–99%
10- Autosomal dominant optic atrophy plus syndrome
- Bothnia retinal dystrophy
- Epithelial recurrent erosion dystrophy
- Gyrate atrophy of choroid and retina
- Progeria-short stature-pigmented nevi syndrome
- Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
- Retinitis punctata albescens
- Sialidosis type 1
- Usher syndrome
- X-linked retinoschisis
Common30–79%
20- 17q11microdeletion syndrome
- Abetalipoproteinemia
- Choroideremia
- Cockayne syndrome
- Combined oxidative phosphorylation defect type 27
- Cone rod dystrophy
- Donnai-Barrow syndrome
- Early-onset X-linked optic atrophy
- HSD10 disease
- Iridocorneal endothelial syndrome
- Knobloch syndrome
- Leber hereditary optic neuropathy
- Maternal uniparental disomy of chromosome 6 syndrome
- Non-functioning pituitary adenoma
- Northern epilepsy
- Paternal uniparental disomy of chromosome 1 syndrome
- Pontocerebellar hypoplasia type 1
- Prolactinoma
- Senior-Loken syndrome
- TSH-secreting pituitary adenoma
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: Decreased visual acuity, progressive · Loss of visual acuity · Progressive vision loss · Progressive visual acuity loss · Progressive visual impairment · Slowly progressive visual loss · Vision loss, progressive · Visual loss, progressive
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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.