Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata

Maree P Flaherty; Chandra Balachandran; Robyn V. Jamieson; Elizabeth C Engle

doi:10.1080/13816810802697473

Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata

Maree P Flaherty, Chandra Balachandran, Robyn V. Jamieson, Elizabeth C Engle

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

6 Citations (Scopus)

Abstract

A 6-month-old boy presented with a congenital eye movement disorder consistent with congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Mutational analysis confirmed the most common mutation in the CFEOM1 gene KIF21A. In addition to the typical findings in CFEOM1, distinctive conjunctival changes and small bilateral optic disc colobomata were also noted. It is suggested that optic disc colobomata represent a new association of CFEOM1.

Original language	English
Pages (from-to)	91-5
Number of pages	5
Journal	Ophthalmic Genetics
Volume	30
Issue number	2
DOIs	https://doi.org/10.1080/13816810802697473
Publication status	Published - Jun 2009
Externally published	Yes

Keywords

Blepharoptosis
Coloboma
Conjunctival Diseases
DNA Mutational Analysis
Fibrosis
Humans
Infant
Kinesin
Male
Mutation
Oculomotor Muscles
Ophthalmoplegia, Chronic Progressive External
Optic Disk
Case Reports
Journal Article
Research Support, N.I.H., Extramural

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title = "Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata",

abstract = "A 6-month-old boy presented with a congenital eye movement disorder consistent with congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Mutational analysis confirmed the most common mutation in the CFEOM1 gene KIF21A. In addition to the typical findings in CFEOM1, distinctive conjunctival changes and small bilateral optic disc colobomata were also noted. It is suggested that optic disc colobomata represent a new association of CFEOM1.",

keywords = "Blepharoptosis, Coloboma, Conjunctival Diseases, DNA Mutational Analysis, Fibrosis, Humans, Infant, Kinesin, Male, Mutation, Oculomotor Muscles, Ophthalmoplegia, Chronic Progressive External, Optic Disk, Case Reports, Journal Article, Research Support, N.I.H., Extramural",

author = "Flaherty, {Maree P} and Chandra Balachandran and Jamieson, {Robyn V.} and Engle, {Elizabeth C}",

year = "2009",

month = jun,

doi = "10.1080/13816810802697473",

language = "English",

volume = "30",

pages = "91--5",

journal = "Ophthalmic Genetics",

issn = "1381-6810",

publisher = "Informa Healthcare",

number = "2",

}

TY - JOUR

T1 - Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata

AU - Flaherty, Maree P

AU - Balachandran, Chandra

AU - Jamieson, Robyn V.

AU - Engle, Elizabeth C

PY - 2009/6

Y1 - 2009/6

N2 - A 6-month-old boy presented with a congenital eye movement disorder consistent with congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Mutational analysis confirmed the most common mutation in the CFEOM1 gene KIF21A. In addition to the typical findings in CFEOM1, distinctive conjunctival changes and small bilateral optic disc colobomata were also noted. It is suggested that optic disc colobomata represent a new association of CFEOM1.

AB - A 6-month-old boy presented with a congenital eye movement disorder consistent with congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Mutational analysis confirmed the most common mutation in the CFEOM1 gene KIF21A. In addition to the typical findings in CFEOM1, distinctive conjunctival changes and small bilateral optic disc colobomata were also noted. It is suggested that optic disc colobomata represent a new association of CFEOM1.

KW - Blepharoptosis

KW - Coloboma

KW - Conjunctival Diseases

KW - DNA Mutational Analysis

KW - Fibrosis

KW - Humans

KW - Infant

KW - Kinesin

KW - Male

KW - Mutation

KW - Oculomotor Muscles

KW - Ophthalmoplegia, Chronic Progressive External

KW - Optic Disk

KW - Case Reports

KW - Journal Article

KW - Research Support, N.I.H., Extramural

U2 - 10.1080/13816810802697473

DO - 10.1080/13816810802697473

M3 - Article

C2 - 19373680

VL - 30

SP - 91

EP - 95

JO - Ophthalmic Genetics

JF - Ophthalmic Genetics

SN - 1381-6810

IS - 2

ER -

Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata

Abstract

Keywords

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