June 2013
Volume 54, Issue 15
ARVO Annual Meeting Abstract  |   June 2013
Optical Coherence Tomography (OCT) and histologic examination of a mouse model of chorioretinal coloboma
Author Affiliations & Notes
  • Sajag Bhattarai
    University of Iowa, Iowa City, IA
  • Daniel Gratie
    University of Iowa, Iowa City, IA
  • Maria Stunkel
    University of Iowa, Iowa City, IA
  • Michael Anderson
    University of Iowa, Iowa City, IA
  • Robert Mullins
    University of Iowa, Iowa City, IA
  • Arlene Drack
    University of Iowa, Iowa City, IA
  • Footnotes
    Commercial Relationships Sajag Bhattarai, None; Daniel Gratie, None; Maria Stunkel, None; Michael Anderson, None; Robert Mullins, Alcon Research Ltd (F); Arlene Drack, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2013, Vol.54, 6095. doi:https://doi.org/
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      Sajag Bhattarai, Daniel Gratie, Maria Stunkel, Michael Anderson, Robert Mullins, Arlene Drack; Optical Coherence Tomography (OCT) and histologic examination of a mouse model of chorioretinal coloboma. Invest. Ophthalmol. Vis. Sci. 2013;54(15):6095. doi: https://doi.org/.

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      © ARVO (1962-2015); The Authors (2016-present)

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Purpose: To characterize a chorioretinal coloboma occurring in the JF1 mouse line.

Methods: Indirect ophthalmoscopy with a 90D lens was performed on JF1 mice. Mice with chorioretinal colobomas had either optical coherence tomography (OCT) performed, followed by sacrifice and histologic preparation of the eyes, or were bred. Select mice fundi were photographed. Offspring of affected mice were examined for presence or absence of coloboma by indirect ophthalmoscopy.

Results: 60 eyes of 30 JF1 mice were examined. 19 were female, 11 were male. 11 of 30 mice demonstrated chorioretinal (CR) coloboma. 10/11 were unilateral. 6 were right eye, while 4 were left eye. 6 of 11 affected mice were female. All colobomas were adjacent to the optic nerve but none involved the nerve itself. On both OCT and histologic examination, the retinal layers adjacent to the colobomatous defect appeared to deviate course toward the sclera. The retinal pigment epithelium (RPE) ended abruptly on either side of the retinal defect. Rather than bare sclera, the base of the coloboma has a layer of collagen above sclera. Trichrome stain revealed collagen infiltrate into the retina. Based on pedigrees, this CR coloboma may be inherited in an autosomal dominant or autosomal recessive manner with variable expressivity.

Conclusions: We describe a mouse model of chorioretinal coloboma. The retinal defect appears to be complex, with disruption of normal retinal layers, and replacement of some tissue rather than simply a localized deficiency of retinal tissue. Variable expressivity is the norm, similar to human CR colobomas.

Keywords: 688 retina • 552 imaging methods (CT, FA, ICG, MRI, OCT, RTA, SLO, ultrasound) • 698 retinal development  

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