Criteria to detect minimal expressivity within families with autosomal dominant aniridia

H. A. Mintz-Hittner, R. E. Ferrell, Leslie A Lyons, F. L. Kretzer

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

Autosomal dominant aniridia with complete penetrance without Wilms' tumor in five generations with 27 affected family members has been reassigned from chromosome 2p25 to chromosome 11p13. Clinically, aniridia was obvious in affected individuals with variable expressivity when they had rudimentary iris stumps, typical or atypical iris colobomata, or round, eccentric pupils. However, iris and retinal fluorescein angiography was required to detect abnormal vascular remodeling that resulted in incomplete iris collarettes and decreased retinal foveal avascular zones in 27 family members at risk with round, central pupils. These angiograms distinguished five affected and 22 unaffected individuals, and were the critical criteria required to detect minimal expressivity of aniridia in family members with round, central pupils.

Original languageEnglish (US)
Pages (from-to)700-707
Number of pages8
JournalAmerican Journal of Ophthalmology
Volume114
Issue number6
StatePublished - 1992
Externally publishedYes

Fingerprint

Aniridia
Iris
Pupil
Chromosomes
Coloboma
Wilms Tumor
Penetrance
Fluorescein Angiography
Angiography

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Criteria to detect minimal expressivity within families with autosomal dominant aniridia. / Mintz-Hittner, H. A.; Ferrell, R. E.; Lyons, Leslie A; Kretzer, F. L.

In: American Journal of Ophthalmology, Vol. 114, No. 6, 1992, p. 700-707.

Research output: Contribution to journalArticle

Mintz-Hittner, H. A. ; Ferrell, R. E. ; Lyons, Leslie A ; Kretzer, F. L. / Criteria to detect minimal expressivity within families with autosomal dominant aniridia. In: American Journal of Ophthalmology. 1992 ; Vol. 114, No. 6. pp. 700-707.
@article{d74f3a9f887c45eb8ad3ed2bd1c0f53f,
title = "Criteria to detect minimal expressivity within families with autosomal dominant aniridia",
abstract = "Autosomal dominant aniridia with complete penetrance without Wilms' tumor in five generations with 27 affected family members has been reassigned from chromosome 2p25 to chromosome 11p13. Clinically, aniridia was obvious in affected individuals with variable expressivity when they had rudimentary iris stumps, typical or atypical iris colobomata, or round, eccentric pupils. However, iris and retinal fluorescein angiography was required to detect abnormal vascular remodeling that resulted in incomplete iris collarettes and decreased retinal foveal avascular zones in 27 family members at risk with round, central pupils. These angiograms distinguished five affected and 22 unaffected individuals, and were the critical criteria required to detect minimal expressivity of aniridia in family members with round, central pupils.",
author = "Mintz-Hittner, {H. A.} and Ferrell, {R. E.} and Lyons, {Leslie A} and Kretzer, {F. L.}",
year = "1992",
language = "English (US)",
volume = "114",
pages = "700--707",
journal = "American Journal of Ophthalmology",
issn = "0002-9394",
publisher = "Elsevier USA",
number = "6",

}

TY - JOUR

T1 - Criteria to detect minimal expressivity within families with autosomal dominant aniridia

AU - Mintz-Hittner, H. A.

AU - Ferrell, R. E.

AU - Lyons, Leslie A

AU - Kretzer, F. L.

PY - 1992

Y1 - 1992

N2 - Autosomal dominant aniridia with complete penetrance without Wilms' tumor in five generations with 27 affected family members has been reassigned from chromosome 2p25 to chromosome 11p13. Clinically, aniridia was obvious in affected individuals with variable expressivity when they had rudimentary iris stumps, typical or atypical iris colobomata, or round, eccentric pupils. However, iris and retinal fluorescein angiography was required to detect abnormal vascular remodeling that resulted in incomplete iris collarettes and decreased retinal foveal avascular zones in 27 family members at risk with round, central pupils. These angiograms distinguished five affected and 22 unaffected individuals, and were the critical criteria required to detect minimal expressivity of aniridia in family members with round, central pupils.

AB - Autosomal dominant aniridia with complete penetrance without Wilms' tumor in five generations with 27 affected family members has been reassigned from chromosome 2p25 to chromosome 11p13. Clinically, aniridia was obvious in affected individuals with variable expressivity when they had rudimentary iris stumps, typical or atypical iris colobomata, or round, eccentric pupils. However, iris and retinal fluorescein angiography was required to detect abnormal vascular remodeling that resulted in incomplete iris collarettes and decreased retinal foveal avascular zones in 27 family members at risk with round, central pupils. These angiograms distinguished five affected and 22 unaffected individuals, and were the critical criteria required to detect minimal expressivity of aniridia in family members with round, central pupils.

UR - http://www.scopus.com/inward/record.url?scp=0026483168&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0026483168&partnerID=8YFLogxK

M3 - Article

C2 - 1463039

AN - SCOPUS:0026483168

VL - 114

SP - 700

EP - 707

JO - American Journal of Ophthalmology

JF - American Journal of Ophthalmology

SN - 0002-9394

IS - 6

ER -