Yonsei Med J.  2017 Sep;58(5):1078-1080. 10.3349/ymj.2017.58.5.1078.

Congenital Orbital Fibrosis: Molecular Genetic Analysis by Whole-Exome and Mitochondrial Genome Sequencing

• Ko J
• Lee HJ
• Lee JS
• Yoon JS

• KMID: 2418951
• DOI: http://doi.org/10.3349/ymj.2017.58.5.1078

Abstract

A 3-year-old girl presented with congenital orbital fibrosis. We performed molecular genetic analysis by whole exome and mitochondrial genome sequencing. No pathologic mutation was identified in the present case. To our best knowledge, this study presents the first report on the findings of mutational analysis of a patient with congenital orbital fibrosis.

Keyword

Fibrosis; orbit; DNA mutational analysis

MeSH Terms

Child, Preschool
DNA Mutational Analysis
Female
Fibrosis
Fundus Oculi
*Genome, Mitochondrial
Humans
Magnetic Resonance Imaging
Mutation/genetics
Orbit/*pathology
Orbital Diseases/*congenital/*genetics
*Whole Exome Sequencing

Figure

• 

  Fig. 1 Clinical photographs and fundus photographs. (A and B) Clinical photographs demonstrate right enophthalmos with ipsilateral upper and lower lid retraction and entropion. (C) Fundus photograph of the right eye shows elevated optic disc with blurred margin.

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  Fig. 2 Magnetic resonance images demonstrate infiltrative enhancement of the right orbital connective/adipose tissue. (A) Coronal T1-weighted spin-echo MR image. (B) Coronal gadolinium-enhanced T1-weighted MR image with spectral presaturation with inversion recovery. (C) Axial 3D volume isotropic turbo spin-echo acquisition T2-weighted MR image. (D) Axial gadolinium-enhanced T1-weighted MR image with spectral presaturation with inversion recovery.

Reference

1. Leone CR Jr, Weinstein GW. Orbital fibrosis with enophthalmos. Ophthalmic Surg. 1972; 3:71–75.

2. Mavrikakis I, Pegado V, Lyons C, Rootman J. Congenital orbital fibrosis: a distinct clinical entity. Orbit. 2009; 28:43–49.

3. Li Y, Han J, Yan H, Li J, Wang D, Xu S. Congenital orbital fibrosis associated with fibrosis of extraocular muscle. BMJ Case Rep. 2012; 2012:bcr2012006384.

4. Hertle RW, Katowitz JA, Young TL, Quinn GE, Farber MG. Congenital unilateral fibrosis, blepharoptosis, and enophthalmos syndrome. Ophthalmology. 1992; 99:347–355.

5. Yazdani A, Traboulsi EI. Classification and surgical management of patients with familial and sporadic forms of congenital fibrosis of the extraocular muscles. Ophthalmology. 2004; 111:1035–1042.

6. Heidary G, Engle EC, Hunter DG. Congenital fibrosis of the extraocular muscles. Semin Ophthalmol. 2008; 23:3–8.

7. Effron L, Price RL, Berlin AJ. Congenital unilateral orbital fibrosis with suspected prenatal orbital penetration. J Pediatr Ophthalmol Strabismus. 1985; 22:133–136.

8. Athanasiov PA, Prabhakaran VC, Selva D. Unilateral orbital fibrosis with blepharoptosis and enophthalmos. Ophthal Plast Reconstr Surg. 2008; 24:156–158.