Postnatal Elongation of Eye Size in DBA/2J Mice Compared with C57BL/6J Mice: In Vivo Analysis with Whole-Eye OCT

Chou, Tsung Han; Kocaoglu, Omer P.; Borja, D.; Ruggeri, Marco; Uhlhorn, Stephen; Manns, Fabrice; Porciatti, Vittorio

doi:10.1167/iovs.10-6340

Cited by 47 publications

(52 citation statements)

References 47 publications

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“…S2). The trend of the AL and VCD of the WT mice was consistent with the previous studies as follows: AL increases during postnatal development, whereas the VCD decreases (60,61).…”

Section: Bsg Mutant Mice Display Typical Myopic Phenotypes In the Axialsupporting

confidence: 91%

Trio-based exome sequencing arrests de novo mutations in early-onset high myopia

Jin

Huang

et al. 2017

Proc. Natl. Acad. Sci. U.S.A.

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The etiology of the highly myopic condition has been unclear for decades. We investigated the genetic contributions to early-onset high myopia (EOHM), which is defined as having a refraction of less than or equal to −6 diopters before the age of 6, when children are less likely to be exposed to high educational pressures. Trios (two nonmyopic parents and one child) were examined to uncover pathogenic mutations using whole-exome sequencing. We identified parent-transmitted biallelic mutations or de novo mutations in asyet-unknown or reported genes in 16 probands. Interestingly, an increased rate of de novo mutations was identified in the EOHM patients. Among the newly identified candidate genes, a BSG mutation was identified in one EOHM proband. Expanded screening of 1,040 patients found an additional four mutations in the same gene. Then, we generated Bsg mutant mice to further elucidate the functional impact of this gene and observed typical myopic phenotypes, including an elongated axial length. Using a trio-based exonic screening study in EOHM, we deciphered a prominent role for de novo mutations in EOHM patients without myopic parents. The discovery of a disease gene, BSG, provides insights into myopic development and its etiology, which expands our current understanding of high myopia and might be useful for future treatment and prevention.early-onset high myopia | de novo mutations | BSG | rare inherited mutations

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“…S2). The trend of the AL and VCD of the WT mice was consistent with the previous studies as follows: AL increases during postnatal development, whereas the VCD decreases (60,61).…”

Section: Bsg Mutant Mice Display Typical Myopic Phenotypes In the Axialsupporting

confidence: 91%

Trio-based exome sequencing arrests de novo mutations in early-onset high myopia

Jin

Huang

et al. 2017

Proc. Natl. Acad. Sci. U.S.A.

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“…Previously, SD-OCT has been used to quantify age-related and TLR ligand-mediated corneal thickness changes in mice [27][28][29] and to assess corneal reflectivity during a sterile wound healing response. 30 At baseline, the adult BALB/c cornea is approximately 10% thicker than the C57BL/6 cornea.…”

Section: Discussionmentioning

confidence: 99%

Monitoring of Strain-Dependent Responsiveness to TLR Activation in the Mouse Anterior Segment Using SD-OCT

Downie¹,

Stainer²,

Chinnery³

2014

Investigative Ophthalmology & Visual Science

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“…A corneal radius of curvature of 1.22 was used after calibrating retinal thickness measurements in the SD-OCT scans to thicknesses at corresponding positions (0.2-mm intervals) in histological sections through the optic nerve head of four mice; the value used was consistent with previous determinations in mice. [30][31][32][33][34] Because axial length influences image magnification, distances from the base of the optic nerve to anterior cornea were measured in paraffin sections (10-lm thickness; 320 magnification) at 3 and 6 months of age using Photoshop version 7 (Adobe Photosystems, Inc., San Jose, CA, USA). Measurements obtained in C57BL/6J (2.586 6 0.034, mean 6 SEM) and Rdh8 À/À Abca4 À/À (2.574 6 0.018, mean 6 SEM) mice (four eyes per group) were not significantly different (one-way ANOVA, P > 0.05).…”

Section: Acquisition and Analysis Of Fundus Af Sd-oct Imagesmentioning

confidence: 99%

Fundus Autofluorescence and Photoreceptor Cell Rosettes in Mouse Models

Flynn

Ueda

Auran

et al. 2014

Invest. Ophthalmol. Vis. Sci.

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Postnatal Elongation of Eye Size in DBA/2J Mice Compared with C57BL/6J Mice: In Vivo Analysis with Whole-Eye OCT

Cited by 47 publications

References 47 publications

Trio-based exome sequencing arrests de novo mutations in early-onset high myopia

Trio-based exome sequencing arrests de novo mutations in early-onset high myopia

Monitoring of Strain-Dependent Responsiveness to TLR Activation in the Mouse Anterior Segment Using SD-OCT

Fundus Autofluorescence and Photoreceptor Cell Rosettes in Mouse Models

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