SynopsisCodesDifferential Diagnosis & PitfallsBest TestsReferences
Renal dysplasia and retinal aplasia
Other Resources UpToDate PubMed

Renal dysplasia and retinal aplasia

Contributors: Deepak Sobti MD
Other Resources UpToDate PubMed


Renal dysplasia and retinal aplasia (Senior-Løken syndrome, juvenile nephronophthisis with Leber amaurosis, renal-retinal syndrome) is a rare genetic disease mainly characterized by the presence of nephronophthisis (NPHP) and Leber congenital amaurosis (LCA).

Renal dysplasia and retinal aplasia is caused by mutations in the genes that play a role in the function and structure of cilia, such as NPHP1, INVS, NPHP3, NPHP4, IQCB1, CEP290, and SDCCAG8.

Usually inherited in an autosomal recessive manner. However, in some patients, associated genetic mutations may not be identified.

The disease will present clinically after birth or during childhood. Typical NPHP symptoms include anemia, enuresis, polydipsia, and polyuria. The disease may progress to either acute or chronic kidney disease and, lastly, to end-stage renal disease. Typical LCA symptoms include either congenital or childhood-onset of vision loss due to retinal dystrophy. In rare cases, patients may present with additional clinical features such as hepatic fibrosis, obesity, and neurological symptoms.

Prognosis is mainly dependent on whether the disease is diagnosed and managed in a timely manner.

Treatment of renal dysplasia and retinal aplasia primarily involves delaying the progression to renal failure and preventing complications. No treatment is currently available to prevent progression to vision loss in LCA.


Q87.89 – Other specified congenital malformation syndromes, not elsewhere classified

236531005 – Renal dysplasia and retinal aplasia

Differential Diagnosis & Pitfalls

  • Nephronophthisis
  • Joubert syndrome related diseases
  • Joubert syndrome with oculorenal defect
  • Bardet-Biedl syndrome
  • Alstrom syndrome

Best Tests

Subscription Required


Subscription Required

Last Updated:06/23/2022
Copyright © 2024 VisualDx®. All rights reserved.
Renal dysplasia and retinal aplasia
A medical illustration showing key findings of Renal dysplasia and retinal aplasia : Polyuria, Anemia, Polydipsia
Copyright © 2024 VisualDx®. All rights reserved.