Papillorenal syndrome differential diagnosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Shivam Singla, M.D.[2]

Overview

The renal coloboma syndrome differentials include most of the disease with renal and ocular anomalies. The numerous important differentials are CHARGE Syndrome that includes characteristic five features of the disease including Coloboma, Heart Abnormalities, Choanal Atresia, Growth and development Retardation, Genital Anomalies, Ear and hearing abnormalities. A lot of patients studied under renal coloboma syndrome do not have any sort of craniofacial anomalies that are typical of CHARGE Syndrome. Other differentials include Branchio-oto-renal syndrome - Renal hypoplasia in these patients makes this an important differential. Pt with PAX6 Mutations - significant overlap with eye findings in patients with PAX6 gene mutation make it an important differential but the renal anomalies that are typical for RCS are absent in these patients. COACH Syndrome or Joubert - Important differential due to the presence of both renal abnormalities and coloboma in these patients. However, patients with Renal coloboma syndrome does not have any developmental abnormality, cerebellar abnormalities, and/or hepatic dysfunction. Cat Eye Syndrome - This genetic abnormality is having symptomatic overlap with renal coloboma syndrome but the Iris coloboma that is typical for RCS is usually not observed in this disorder.

Differential Diagnosis

Charge Syndrome, https://www.pinterest.com/pin/745979125752518021/

Various differential diagnosis of renal coloboma syndrome are as follows:

• CHARGE syndrome
  • Coloboma
  • Heart Abnormalities
  • Choanal Atresia
  • Growth and development Retardation
  • Genital Anomalies
  • Ear and hearing abnormalities

A lot of patients studied under renal coloboma syndrome do not have any sort of craniofacial anomalies that are typical of CHARGE Syndrome.

• Branchio-oto-renal syndrome- Renal hypoplasia in these patients makes this an important differential.

• PAX6 Mutations - significant overlap with eye findings in patients with PAX6 gene mutation make it an important differential
  • The renal anomalies that are typical for RCS are not present in these patients.

• COACH Syndrome or Joubert - Important differential due to the presence of both renal abnormalities and coloboma in these patients.
  • However, patients with Renal coloboma syndrome does not have any characteristic features of Joubert syndrome that is:
    • Developmental abnormality
    • Cerebellar abnormalities

      

      Cat Eye Syndrome- Differential for Renal coloboma syndrome, https://www.pinterest.com/pin/789326272162992595/

    • Hepatic dysfunction
  • Important symptoms of this syndrome include:
    • Abnormally large head and forehead
    • Renal Cyst
    • Jerky Eye movements
    • Developmental delays
    • Hypotonia with unsteadiness

• Cat Eye Syndrome - This genetic abnormality is having symptoms overlapping with renal coloboma syndrome
  • The Iris colobomas that are typical for RCS are usually not observed in this disorder.