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Familial Axenfeld-Rieger anomaly, atrial septal defect, and sensorineural hearing loss: a possible new genetic syndrome.
- Source :
-
Archives of ophthalmology (Chicago, Ill. : 1960) [Arch Ophthalmol] 1998 Jan; Vol. 116 (1), pp. 78-82. - Publication Year :
- 1998
-
Abstract
- Objective: To describe the clinical and ocular histopathological findings in multiple members of a family with congenital Axenfeld-Rieger anomaly, atrial septal defect, and sensorineural hearing loss.<br />Methods: We performed a retrospective review of the medical charts and the ocular histopathological material of multiple members of a family.<br />Results: Congenital Axenfeld-Rieger anomaly and glaucoma were inherited by both the proband and her male half-sibling from a phenotypically positive father and 2 different phenotypically negative mothers, suggesting an autosomal dominant inheritance. The proband's male half-sibling and her father also had atrial septal defects and sensorineural hearing loss. The proband's paternal grandmother had severe glaucoma. Histopathological analysis of blind, painful eyes removed from the proband's father and paternal grandmother showed incomplete development of the anterior chamber angle with iris stromal hypoplasia, prominent posterior embryotoxon with iris adhesions, and abnormal position and insertion of the ciliary muscles.<br />Conclusions: This is the first description of coexisting Axenfeld-Rieger anomaly, atrial septal defect, and sensorineural hearing loss in multiple members of a single family. The iris, trabecular meshwork, and large portions of the cardiac intraventricular septum all arise from neural crest anlagen, thus supporting the notion that anterior segment dysgenesis represents a developmental disorder of the neural crest.
- Subjects :
- Adult
Anterior Eye Segment abnormalities
Anterior Eye Segment pathology
Child, Preschool
Ciliary Body abnormalities
Ciliary Body pathology
Eye Abnormalities pathology
Female
Glaucoma genetics
Glaucoma pathology
Hearing Loss, Sensorineural pathology
Heart Septal Defects, Atrial pathology
Humans
Infant
Male
Middle Aged
Pedigree
Phenotype
Retrospective Studies
Syndrome
Abnormalities, Multiple
Eye Abnormalities genetics
Hearing Loss, Sensorineural genetics
Heart Septal Defects, Atrial genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0003-9950
- Volume :
- 116
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Archives of ophthalmology (Chicago, Ill. : 1960)
- Publication Type :
- Academic Journal
- Accession number :
- 9445211
- Full Text :
- https://doi.org/10.1001/archopht.116.1.78