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Joubert syndrome with ocular defect

Disease definition

Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy.

ORPHA:220493

Classification level: Disorder
  • Synonym(s):
    • JS-O
    • Joubert syndrome with retinopathy
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: H35.5  Q04.3
  • ICD-11: LD20.0Y
  • OMIM: 608629  614424  614464  614970  617121
  • UMLS: -
  • MeSH: -
  • GARD: 10168
  • MedDRA: -

Summary

Epidemiology

Prevalence is unknown.

Clinical description

Age of onset and severity of retinal involvement are variable, ranging from congenital blindness in patients with Leber congenital amaurosis (LCA, see this term) to progressive retinopathy with partial conservation of vision.

Etiology

To date, the most frequently mutated gene in this subtype is AHI1 (6q23.2), which accounts for about 20% of cases, following autosomal recessive inheritance.

Expert reviewer(s):  Dr Francesco BRANCATI - Pr Bruno DALLAPICCOLA - Pr Enza Maria VALENTE - Last update: July 2011

  A summary on this disease is available in Deutsch (2011) Español (2011) Français (2011) Italiano (2011) Nederlands (2011) Português (2011) Greek (2011, pdf)

Detailed information

General public

Guidelines

Disease review articles

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

Newborn screening

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.