Dominant inheritance of optic pits

S. T. Stefko; P. Campochiaro; P. Wang; Y. Li; D. Zhu; E. I. Traboulsi

doi:10.1016/S0002-9394(14)71656-3

Dominant inheritance of optic pits

S. T. Stefko, P. Campochiaro, P. Wang, Y. Li, D. Zhu, E. I. Traboulsi

Research output: Contribution to journal › Article › peer-review

35 Scopus citations

Abstract

PURPOSE: To report the familial occurrence of optic pits and to screen the candidate PAX2 gene for mutations in this family. METHODS: Clinical family study. Standard mutation analysis of the PAX2 exons. RESULTS: Unilateral optic pits were present in three generations of one family and were inherited in an autosomal dominant fashion. No mutations in the PAX2 gene, responsible for the renal-optic coloboma syndrome, were found. CONCLUSION: Unilateral optic pits may be inherited in an autosomal dominant fashion and not in association with mutation in the PAX2 gene.

Original language	English (US)
Pages (from-to)	112-113
Number of pages	2
Journal	American journal of ophthalmology
Volume	124
Issue number	1
DOIs	https://doi.org/10.1016/S0002-9394(14)71656-3
State	Published - 1997
Externally published	Yes

ASJC Scopus subject areas

Ophthalmology

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10.1016/S0002-9394(14)71656-3

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title = "Dominant inheritance of optic pits",

abstract = "PURPOSE: To report the familial occurrence of optic pits and to screen the candidate PAX2 gene for mutations in this family. METHODS: Clinical family study. Standard mutation analysis of the PAX2 exons. RESULTS: Unilateral optic pits were present in three generations of one family and were inherited in an autosomal dominant fashion. No mutations in the PAX2 gene, responsible for the renal-optic coloboma syndrome, were found. CONCLUSION: Unilateral optic pits may be inherited in an autosomal dominant fashion and not in association with mutation in the PAX2 gene.",

author = "Stefko, {S. T.} and P. Campochiaro and P. Wang and Y. Li and D. Zhu and Traboulsi, {E. I.}",

year = "1997",

doi = "10.1016/S0002-9394(14)71656-3",

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T1 - Dominant inheritance of optic pits

AU - Stefko, S. T.

AU - Campochiaro, P.

AU - Wang, P.

AU - Li, Y.

AU - Zhu, D.

AU - Traboulsi, E. I.

PY - 1997

Y1 - 1997

N2 - PURPOSE: To report the familial occurrence of optic pits and to screen the candidate PAX2 gene for mutations in this family. METHODS: Clinical family study. Standard mutation analysis of the PAX2 exons. RESULTS: Unilateral optic pits were present in three generations of one family and were inherited in an autosomal dominant fashion. No mutations in the PAX2 gene, responsible for the renal-optic coloboma syndrome, were found. CONCLUSION: Unilateral optic pits may be inherited in an autosomal dominant fashion and not in association with mutation in the PAX2 gene.

AB - PURPOSE: To report the familial occurrence of optic pits and to screen the candidate PAX2 gene for mutations in this family. METHODS: Clinical family study. Standard mutation analysis of the PAX2 exons. RESULTS: Unilateral optic pits were present in three generations of one family and were inherited in an autosomal dominant fashion. No mutations in the PAX2 gene, responsible for the renal-optic coloboma syndrome, were found. CONCLUSION: Unilateral optic pits may be inherited in an autosomal dominant fashion and not in association with mutation in the PAX2 gene.

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JO - American Journal of Ophthalmology

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Dominant inheritance of optic pits

Abstract

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