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Leber congenital amaurosis

MeSH: D057130ORPHA: 65

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness

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 Leber congenital amaurosis, sourced from HPO and Orphanet clinical annotations.

Severely reduced visual acuityAbnormal retinal pigmentationAbnormal optic disc morphologyAbnormal electroretinogramCataractHypermetropiaKeratoconusPhotophobiaNystagmusSeizureHypotoniaEye pokingEncephaloceleAbnormality of neuronal migrationHemiplegia/hemiparesisAplasia/Hypoplasia of the cerebellar vermisSlow pupillary light responseAbnormal full-field electroretinogramHearing impairmentOptic disc pallorAutistic behaviorIntellectual disabilityGlobal developmental delayMotor delayOptic disc drusen

Classification & Codes

MeSH Code

D057130

Orphanet Code

ORPHA:65
Leber congenital amaurosis
MeSHD057130
OrphanetORPHA:65
Treatments0 drug(s)
Symptoms on record25 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO