Biomaterial Database

Aniridia with congenital ptosis and glaucoma: a family study. 1988

S M Cohen, and L B Nelson

Pediatric Ophthalmology Service, Wills Eye Hospital, Philadelphia, PA 19107.

In a family pedigree of aniridics, including eight patients from four generations, a wide range of ophthalmic anomalies was found. Varying degrees of congenital ptosis with decreased levator function were noted. All patients had corneal dystrophic changes. Three patients had congenital glaucoma, and one had acquired glaucoma. All affected family members except those with congenital glaucoma had microcornea. An infant with congenital glaucoma had a normal corneal diameter with an increased axial length.

UI	MeSH Term	Description	Entries
D007498	Iris	The most anterior portion of the uveal layer, separating the anterior chamber from the posterior. It consists of two layers - the stroma and the pigmented epithelium. Color of the iris depends on the amount of melanin in the stroma on reflection from the pigmented epithelium.
D008297	Male		Males
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D010375	Pedigree	The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.	Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D001763	Blepharoptosis	Drooping of the upper lid due to deficient development or paralysis of the levator palpebrae muscle.	Ptosis, Eyelid,Blepharoptoses,Eyelid Ptoses,Eyelid Ptosis,Ptoses, Eyelid
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D003315	Cornea	The transparent anterior portion of the fibrous coat of the eye consisting of five layers: stratified squamous CORNEAL EPITHELIUM; BOWMAN MEMBRANE; CORNEAL STROMA; DESCEMET MEMBRANE; and mesenchymal CORNEAL ENDOTHELIUM. It serves as the first refracting medium of the eye. It is structurally continuous with the SCLERA, avascular, receiving its nourishment by permeation through spaces between the lamellae, and is innervated by the ophthalmic division of the TRIGEMINAL NERVE via the ciliary nerves and those of the surrounding conjunctiva which together form plexuses. (Cline et al., Dictionary of Visual Science, 4th ed)	Corneas
D003316	Corneal Diseases	Diseases of the cornea.	Corneal Disease,Disease, Corneal,Diseases, Corneal
D003318	Corneal Opacity	Disorder occurring in the central or peripheral area of the cornea. The usual degree of transparency becomes relatively opaque.	Leukoma,Corneal Opacities,Leukomas,Opacities, Corneal,Opacity, Corneal
D005260	Female		Females