Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Persistent hyperplastic primary vitreous

Chorioretinal coloboma

Absence of a region of the retina, retinal pigment epithelium, and choroid.

Total: 1

(per page)

PMID (PMCID)
11534546	MIXED_SAMPLE	Infant, Newborn
	Five cases of microphthalmia with other ocular malformations.
	Lee JS, Lee JE, Shin YG, Choi HY, Oum BS, Kim HJ. Korean J Ophthalmol. 2001;15(1):41-7.
	There is a limited range of well-described malformation, including anterior or posterior segment dysgenesis or combined pathology such as corneal opacity, small cornea, iris hypoplasia, lens dislocation, cataract, chorioretinal coloboma, persistent hyperplastic primary vitreous (PHPV), retinal dysplasia, and intraocular tumor.