Clinical Guidance

PAX2-related disorder is associated with abnormalities involving the kidneys and/or the eyes. The original PAX2-related disorder known as renal coloboma syndrome is characterized by hypodysplastic kidneys and optic nerve abnormalities (most commonly optic nerve dysplasia) with or without optic nerve or retinal coloboma . Variability. The clinical findings vary even within families, with some family members having either renal manifestations or optic nerve abnormalities and others having both. The severity of renal malformations can range within a family from absence of clinical symptoms to severe fetal renal failure.

Diagnostic Criteria

Renal coloboma syndrome (or papillorenal syndrome) was the name given to an autosomal dominant condition associated with renal hypodysplasia and abnormalities of the optic nerve and a heterozygous pathogenic variant in PAX2. With improved access to molecular genetic testing, more individuals have been identified and it has become clear that multiple phenotypes beyond that of classic renal coloboma syndrome may be associated with pathogenic variants in PAX2. The authors feel that the term "PAX2-related disorder" best reflects this wide phenotypic variability. There are no formal diagnostic criteria for PAX2-related disorder.

Suggestive Findings

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with PAX2-related disorder, the following are recommended if they have not already been completed:

• Evaluation of renal structure by renal ultrasound examination

Surveillance Guidelines

No disease-specific guidelines have been developed. The following ongoing evaluations are recommended in all individuals with PAX2-related disorder.

• Follow up by a nephrologist to monitor renal function and blood pressure

• Follow up by an ophthalmologist to monitor vision. Any change in vision could indicate a retinal detachment and should be treated as a medical emergency.