Papillorenal syndrome risk factors
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Shivam Singla, M.D.[2]
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The pathophysiology and the risk factors responsible for the development of Renal-coloboma syndrome is mainly genetic and related to the expression of PAX 2 gene. So the genetic inheritance is the main risk factor or the important determinant in the causation of Renal-coloboma syndrome. This genetic syndrome keeps on clustering in the future generations.
The environmental risk factors that impact the pregnancy like alcohol and some drugs may also contribute to the development of Renal-coloboma syndrome. In conclusion, RCS leads to the abnormal development of organs like kidney and eyes during the pregnancy period. The abnormal development of eyes usually happens in the third trimester during that time the eyes are formed. The abnormalities usually occur due to the impairment in the closure of the optic disc. It usually depends on which specific part or areas of optic fissure fails to close.
Risk factors
The pathophysiology and the risk factors responsible for the development of Renal-coloboma syndrome is mainly genetic and related to the expression of PAX2[1][2] gene. So the genetic inheritance is the main risk factor and this genetic syndrome keeps on clustering in the future generations. The environmental risk factors that impact the pregnancy like alcohol and some drugs may contribute to the development of Renal-coloboma syndrome. In conclusion, RCS leads to the abnormal development of organs like kidney and eyes during the pregnancy period. The abnormal development of eyes usually happens in the third trimester during that time the eyes are formed. The abnormalities usually happen when there is a failure of optic disc closure. It usually depends on which specific part or areas of optic fissure fails to close.
Coloboma[3] or keyhole pupil might occurs all of sudden at its own during the pregnancy or it may be acquired. Some cases reported that even isolated coloboma is passed from one generation to another.
Prenatal care and diagnostic evaluation are possible for the cases where there is a high index of suspicion or if there is a clear cut family history of PAX2 gene mutation running in the family. This Renal-coloboma syndrome usually presents in autosomal dominant pattern with variations and complications due to other associated genetic manipulations like variable expression, genetic mosaicism and/or incomplete penetrance.
The eyes in the fetus develop during the first 3 months. Choroidal fissure forms the eye. This usually closes by the seventh week of pregnancy and failure of closure of this results in the development of coloboma. Usually affects one eye but at point seen affecting both eyes as well. There are different types of coloboma based on the structural and functional tissue of the eye affected.
Lens coloboma- The missing part is the lens piece
Eyelid coloboma- The missing tissue here is part of the upper or lower eyelids.
Optic nerve coloboma- Optic nerve is affected that results in the impairment of vision.
Uveal coloboma- If the coloboma affects the iris then it is given a special name called Cat-eye appearance.
Chorio-retinal coloboma- Retina is the missing part in this case.
Macular coloboma- The development of macula is abnormal in this case.
References
- ↑ Parsa CF, Silva ED, Sundin OH, Goldberg MF, De Jong MR, Sunness JS, Zeimer R, Hunter DG (April 2001). "Redefining papillorenal syndrome: an underdiagnosed cause of ocular and renal morbidity". Ophthalmology. 108 (4): 738–49. doi:10.1016/s0161-6420(00)00661-8. PMID 11297491.
- ↑ 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.
- ↑ Okumura T, Furuichi K, Higashide T, Sakurai M, Hashimoto S, Shinozaki Y, Hara A, Iwata Y, Sakai N, Sugiyama K, Kaneko S, Wada T (2015). "Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome". PLoS ONE. 10 (11): e0142843. doi:10.1371/journal.pone.0142843. PMC 4646464. PMID 26571382.