|Joubert-syndroom met oculorenale afwijkingen (aandoening)|
Joubert-syndroom met oculorenale afwijkingen
syndroom van Joubert met oog- en nierafwijkingen
syndroom van Arima
syndroom van cerebellaire vermisagenesie met oog- en nierafwijkingen
Joubert syndrome with oculorenal defect
A rare subtype of Joubert syndrome and related disorders with characteristics of the neurological features of Joubert syndrome associated with both renal and ocular disease. Prevalence is unknown. The patient presents with retinal involvement (manifesting with either Leber congenital amaurosis or progressive retinal dystrophy) and nephronophthisis (usually juvenile). Retinal involvement is present at birth or may manifest later in life. Juvenile nephronophthisis usually becomes clinically symptomatic towards the late first decade or the early second decade of life. About 50% of patients carry mutations in the CEP290 gene (12q21.33), the syndrome is transmitted in an autosomal recessive manner.