Peters anomaly in cri-du-chat syndrome

Trisomy 18 and eye anomalies

“…These anomalies cause visual loss through obstruction of vision axis [Weh et al, ]. Peters anomaly can be isolated or associated with systemic defects [Kurilec and Zaidman, ; Weh et al, ], including chromosomal abnormalities as 22q11 deletion syndrome [Kurilec and Zaidman, ] and cri–du–chat syndrome [Hope et al, ]. In our literature review, we did not find descriptions of patients with trisomy 18 and Peters anomaly, as observed in our sample.…”

“…Peters anomaly is a major cause of congenital corneal opacity [Kurilec and Zaidman, ; Hope et al, ; Ni et al, ]. It is a rare form of anterior segment dysgenesis in that the corneal haze may or may not be accompanied by iridocorneal adhesions and associated defects in the subsequent cornea layers [Weh et al, ; Hope et al, ]. Another feature is the absence of Descemet's membrane and endothelium in the opacity area [Kurilec and Zaidman, ; Hope et al, ; Ni et al, ].…”

“…It is a rare form of anterior segment dysgenesis in that the corneal haze may or may not be accompanied by iridocorneal adhesions and associated defects in the subsequent cornea layers [Weh et al, ; Hope et al, ]. Another feature is the absence of Descemet's membrane and endothelium in the opacity area [Kurilec and Zaidman, ; Hope et al, ; Ni et al, ]. These anomalies cause visual loss through obstruction of vision axis [Weh et al, ].…”

Children and Adults Affected by Cri Du Chat Syndrome: Care's Recommendations

“…Early evaluation by an ophthalmologist is also needed: it is important to start an appropriate follow up with the child collaboration, since cataract, optic atrophy, severe myopia and retinopathy are often present but often underdiagnosed and they can cause progressive reduction of visual function and consequent learning difficulties. 20,21 A good visual function allows not only the use of facilitated communication techniques but also to watch simple TV shows, to leaf through children books, to play videogames, just to mention some of our children interests.…”

Gene-Environment Interactions Target Mitogen-activated Protein 3 Kinase 1 (MAP3K1) Signaling in Eyelid Morphogenesis

“…It is worth noting, however, that large alterations of chromosomal regions in close proximity of the MAP3K1 loci are found in sporadic cases of human congenital eye and cranial facial abnormalities (55,56). Given that the genetic basis for most congenital eye diseases is still poorly understood, MAP3K1 mutation may be one of the risk factors for unexplained congenital eye anomalies, an idea yet to be tested through extensive clinical genetic studies.…”