Abstract
Cavitary congenital optic disc anomalies include optic disc coloboma, morning glory disc anomaly, optic pit, and the papillorenal syndrome. Peripapillary staphyloma is occasionally included in this group but it does not represent an anomaly of the optic disc itself and is not discussed herein. A variety of systemic and neurologic conditions may accompany these optic disc anomalies. Precise classification can be difficult and some debate exists as to whether these anomalies represent distinct clinical entities or are part of a single spectrum of disease. This is further complicated by historical inconsistencies in the literature. Advances in molecular genetics may help to define clearly the etiology of these anomalies.
MeSH terms
-
Abnormalities, Multiple / embryology
-
Abnormalities, Multiple / genetics
-
Cell Movement
-
Coloboma / genetics
-
Coloboma / pathology
-
Comorbidity
-
Encephalocele / genetics
-
Eye Abnormalities / genetics
-
Eye Proteins / genetics
-
Homeodomain Proteins / genetics
-
Humans
-
Kidney / abnormalities
-
Nervous System Malformations / embryology
-
Nervous System Malformations / genetics
-
Neural Crest
-
Optic Disk / abnormalities*
-
Optic Disk / pathology
-
PAX2 Transcription Factor / deficiency
-
PAX2 Transcription Factor / genetics
-
PAX6 Transcription Factor
-
Paired Box Transcription Factors / deficiency
-
Paired Box Transcription Factors / genetics
-
Repressor Proteins / genetics
-
Syndrome
-
Vision Disorders / etiology
Substances
-
Eye Proteins
-
Homeodomain Proteins
-
PAX2 Transcription Factor
-
PAX2 protein, human
-
PAX6 Transcription Factor
-
PAX6 protein, human
-
Paired Box Transcription Factors
-
Repressor Proteins