Bothnia retinal dystrophy
MeSH: C564392ORPHA: 85128
Overview
Human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Bothnia retinal dystrophy, sourced from HPO and Orphanet clinical annotations.
Progressive visual lossColor vision defectVisual field defectAbnormal dark-adapted electroretinogramUndetectable dark-adapted electroretinogramIncreased OCT-measured foveal thicknessAbnormal foveal morphologyAbnormality of refractionRetinal degenerationPigmentary retinopathyMacular degenerationRetinal pigment epithelial mottlingRetinitisRod-cone dystrophyCentral scotomaAbnormal choroid morphologyNyctalopiaLarge central visual field defectRetinal pigment epithelial atrophyERG: Reduced dark-adapted b-wave amplitudeParacentral scotomaRing scotoma
Classification & Codes
MeSH Code
C564392Orphanet Code
ORPHA:85128Bothnia retinal dystrophy
| MeSH | C564392 |
| Orphanet | ORPHA:85128 |
| Treatments | 0 drug(s) |
| Symptoms on record | 22 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO