Papillorenal syndrome natural history, complications and prognosis

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

Complications

There are numerous complications associated with patients of renal coloboma syndrome mainly involving renal and ocular manifestations.

The most common complications associated are:

End stage renal disease

VUR (Vesicoureteral reflux)

Eyelid coloboma

Iris coloboma

• Photophobia.
• Presence of double vision or blurring in the eyes.

Choroidoretinal coloboma

• Amblyopia
• Anisometropia,
• Retinal detachment ( Most common complication seen in patients with Choroidoretinal and optic disc coloboma)
• Strabismus
• Lens subluxation
• Cataracts
• Lens subluxation (uncommon).
• Glaucoma
• Morning glory disc anomaly
  

Prognosis

The prognosis for renal coloboma syndrome depends primarily on the treatment the patient is receiving.

Whether the patient is receiving an appropriate treatment for the RCS plays a major role in the prognosis of patients with RCS

Renal failure or ESRD can occur at any age and

• Treatment modalities reserved for this condition are dialysis and renal transplantation.

Formal longitudinal studies of visual prognosis have not been carried out.

The prognosis for renal coloboma syndrome is worse in the presence of congenital anomalies in the patient.

• If having underlying concomitant congenital heart disease ( cyanotic), anomalies with the brain and spinal cord, and esophageal atresia
• The prognosis in the patients with these underlying conditions is bad/unfavorable

Ocular prognosis or prognosis for the vision mainly depends on:

• The severity

• The Location of colobomas in the eye ( in relation to the optic nerve and maculopapular bundle and macula)

• The Presence of complications like
  • Amblyopia
  • Retinal detachment.

The prognosis in patients with morning glory syndrome is usually poor.

Formal Longitudinal studies on visual prognosis of renal coloboma syndrome has not been carried out, However decreased visual acuity over time has been reported.