Optic disc coloboma and localized chorioretinal defects in constitutional partial trisomy 8 mosaicism.
Constitutional partial trisomy 8 mosaicism is a rare chromosomal multisystem disorder with systemic and ophthalmologic manifestations. We report the case of a 15-year-old female mosaic for trisomy 8 who has unilateral colobomatous microphthalmia and multiple chorioretinal defects. These congenital anomalies have not been previously reported in association with constitutional partial trisomy 8 mosaicism.
Taban
Mehryar
M
Department of Pediatric Ophthalmology and The Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA.
Marcotty
Andreas
A
Traboulsi
Elias I
EI
D000293:Adolescent; D015862:Choroid Diseases / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D003103:Coloboma / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping; D008850:Microphthalmos / Q000235:genetics; D009030:Mosaicism; D009898:Optic Disk / Q000002:abnormalities*; D012164:Retinal Diseases / Q000235:genetics*; D014314:Trisomy