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]
Overview
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.
Natural History
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.
Complications
There are numerous complications associated with patients of renal coloboma syndrome mainly involving renal and ocular manifestations.
The most common complications associated are:
VUR (Vesicoureteral reflux)
- Photophobia.
- Presence of double vision or blurring in the eyes.
- 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 adequacy and accuracy of treatment the patient is receiving.
Renal failure or ESRD can occur at any age
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
The prognosis in patients with morning glory syndrome is usually poor[6].
References
- ↑ Deng H, Zhang Y, Xiao H, Yao Y, Liu X, Su B, Zhang H, Xu K, Wang S, Wang F, Ding J (June 2019). "Diverse phenotypes in children with PAX2-related disorder". Mol Genet Genomic Med. 7 (6): e701. doi:10.1002/mgg3.701. PMC 6565600 Check
|pmc=value (help). PMID 31060108. - ↑ Schimmenti LA (December 2011). "Renal coloboma syndrome". Eur. J. Hum. Genet. 19 (12): 1207–12. doi:10.1038/ejhg.2011.102. PMC 3230355. PMID 21654726.
- ↑ "Coloboma | Doctor | Patient".
- ↑ "Renal-Coloboma Syndrome | Syndromes: Rapid Recognition and Perioperative Implications | AccessAnesthesiology | McGraw-Hill Medical".
- ↑ "www.orpha.net".
- ↑ "Morning Glory Syndrome - American Academy of Ophthalmology".