Renal dysplasia and retinal aplasia
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