Entry - 129750 - ECTOPIA PUPILLAE - OMIM - (MIRROR)

 
ICD+
129750

ECTOPIA PUPILLAE


Clinical Synopsis
 

Eyes
- Isolated etopic pupil
Inheritance
- Autosomal dominant
- ? separate from ectopia lentis et pupillae (225200) or ptosis, strabismus and ectopic pupils (178330)
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TEXT

▼ Description

Ectopia pupillae is a congenital eye malformation in which the pupils are displaced from their normal central position.

▼ Inheritance

Whether familial ectopic pupil occurs as an isolated anomaly is not certain. It is a feature of ectopia lentis et pupillae (225200) and of ptosis, strabismus, and ectopic pupils (178330). In either of these conditions, individuals or part of a kindred might show only ectopic pupil. Hanson et al. (1999) found ectopia pupillae in a child with 'atypical aniridia'; see 106210 and (607108.0013).


▼ REFERENCES

  1. Hanson, I., Churchill, A., Love, J., Axton, R., Moore, T., Clarke, M., Meire, F., van Heyningen, V. Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations. Hum. Molec. Genet. 8: 165-172, 1999. [PubMed: 9931324, related citations] [Full Text]


Contributors:
Victor A. McKusick - updated : 3/9/1999
Creation Date:
Victor A. McKusick : 6/4/1986
Edit History:
carol : 06/29/2010
ckniffin : 8/27/2002
carol : 3/25/1999
terry : 3/9/1999
mimadm : 9/24/1994
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988
reenie : 6/4/1986

129750

ECTOPIA PUPILLAE


SNOMEDCT: 193523008, 392461003;  



TEXT

Description

Ectopia pupillae is a congenital eye malformation in which the pupils are displaced from their normal central position.

Inheritance

Whether familial ectopic pupil occurs as an isolated anomaly is not certain. It is a feature of ectopia lentis et pupillae (225200) and of ptosis, strabismus, and ectopic pupils (178330). In either of these conditions, individuals or part of a kindred might show only ectopic pupil. Hanson et al. (1999) found ectopia pupillae in a child with 'atypical aniridia'; see 106210 and (607108.0013).


REFERENCES

  1. Hanson, I., Churchill, A., Love, J., Axton, R., Moore, T., Clarke, M., Meire, F., van Heyningen, V. Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations. Hum. Molec. Genet. 8: 165-172, 1999. [PubMed: 9931324] [Full Text: https://doi.org/10.1093/hmg/8.2.165]


Contributors:
Victor A. McKusick - updated : 3/9/1999

Creation Date:
Victor A. McKusick : 6/4/1986

Edit History:
carol : 06/29/2010
ckniffin : 8/27/2002
carol : 3/25/1999
terry : 3/9/1999
mimadm : 9/24/1994
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988
reenie : 6/4/1986



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: Nov. 30, 2024