Papillorenal syndrome natural history, complications and prognosis

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

RCS is an autosomal dominant disorder characterized by renal and ocular anomalies. It is mainly relate to the PAX2 gene mutations. Epidemiological estimated incidence of coloboma is about 1 in 10,000 births. Only the coloboma itself is estimated to account for 3-11% of blindness in children’s worldwide. Prevalence of disease is still unknown with more than 60 cases are reported in the scientific literature. The most common complications associated are: End stage renal disease, VUR (Vesicoureteral reflux), Eyelidcoloboma, Iris coloboma. The prognosis for renal coloboma syndrome depends primarily on the treatment the patient is receiving. The prognosis for renal coloboma syndrome is worse in the presence of congenital anomalies in the patient.

RCS is an autosomal dominant disorder characterized by renal and ocular anomalies. It is mainly relate to the PAX2^[1] gene mutations. Epidemiological estimated incidence of coloboma is about 1 in 10,000 births. Only the coloboma itself is estimated to account for 3-11% of blindness in children’s worldwide. Prevalence of disease is still unknown with more than 60 cases are reported in the scientific literature. Patients with this disorder typically has small underdeveloped or hypoplastic kidneys leading in most of the cases into ESRD^[2]. Additionally in the eyes the malformation of optic nerve leads to the development of colobomas, which are mainly referred to as hole in the eye tissue.

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^[3]

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
  

The prognosis for Renal-coloboma syndrome depends primarily on the adequacy and accuracy of treatment the patient is receiving.

Renal failure or ESRD can occur at any age

• Treatment modalities used are dialysis and renal transplantation.

The prognosis for RCS is worse in the presence of congenital anomalies in the patient^[4].

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

Formal longitudinal studies of visual prognosis have not been carried out^[5].

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^[6].

Template:WH Template:WS