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Reese retinal dysplasia

MedGen UID:
341456
Concept ID:
C1849450
Disease or Syndrome
Synonym: Reese Retinal Dysplasia
 
Monarch Initiative: MONDO:0009957
OMIM®: 266400

Clinical features

From HPO
Retinal dysplasia
MedGen UID:
48433
Concept ID:
C0035313
Congenital Abnormality
The presence of developmental dysplasia of the retina.
Persistent hyperplastic primary vitreous
MedGen UID:
120583
Concept ID:
C0266568
Congenital Abnormality
Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract.

Recent clinical studies

Diagnosis

Kaku T, Sasai K, Nagamine Y, Takahashi M
Acta Pathol Jpn 1975 May;25(3):347-53. doi: 10.1111/j.1440-1827.1975.tb03262.x. PMID: 1155094

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