Unilateral persistent fetal vasculature coexisting with anterior segment dysgenesis
Tóm tắt
Persistent fetal vasculature (PFV) is a common congenital developmental anomaly of the eye which results from failure of the embryological primary vitreous and hyaloid vasculature to regress by the time of birth (Int Ophthalmol Clin 48: 53–62, 2008). Typically, it is divided into anterior, posterior or combined types and is characterized by the presence of a vascular stalk located between the optic disc and the posterior lens capsule (Int Ophthalmol Clin 48: 53–62, 2008). Although it has been reported to manifest itself differently, in our case it presented in a microphthalmic eye as anterior segment dysgenesis with broad-based mid-peripheral synechiae, posterior embryotoxon, iridoschisis, ectropion uveae, hypotony and subluxated cataractous lens with a taut anterior hyaloid face which are rare associations with PFV.
Tài liệu tham khảo
Cerón O, Lou PL, Kroll AJ et al (2008) The vitreo-retinal manifestations of persistent hyperplasic primary vitreous (PHPV) and their management. Int Ophthalmol Clin 48:53–62 (Review)
Khokhar S, Tejwani LK, Kumar G et al (2011) Approach to cataract with persistent hyperplastic primary vitreous. J Cataract Refract Surg 37:1382–1385
Yamada K, Ozeki H, Ieda M et al (1997) Four cases of persistent hyperplastic primary vitreous. Nihon Ganka Gakkai Zasshi 101:826–831 (Japanese)
Suzuki K, Nakamura M, Amano E et al (2006) Case of chromosome 6p25 terminal deletion associated with Axenfeld–Rieger syndrome and persistent hyperplastic primary vitreous. Am J Med Genet A 140:503–508
Kelberman D, Islam L (2011) Hold. Digenic inheritance of mutations in FOXC1 and PITX2: correlating transcription factor function and Axenfeld–Rieger disease severity. Hum Mutat 32:1144–1152