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Zfp503 haploinsufficiency causes optic nerve coloboma in mice
Jenna Wong-Fortunato1, Benjamin Yang1, Louise Lanoue2
1Department of Ophthalmology & Vision Science, University of California Davis Eye Center, Sacramento, CA, USA.
Experimental Eye Research
|March 26, 2026
Summary
Zfp503 gene deficiency causes severe eye development issues, including anophthalmia and optic nerve coloboma in mice. The human ZNF503 gene is also present in developing human eyes.
Area of Science:
- Developmental biology
- Genetics
- Ophthalmology
Background:
- The Zfp503 gene's function in mammalian eye development is not fully understood.
- Understanding Zfp503's role is crucial for insights into congenital eye abnormalities.
Purpose of the Study:
- To investigate the role of Zfp503 in mammalian eye development.
- To characterize the ocular phenotypes associated with Zfp503 deficiency.
Main Methods:
- Generation of Zfp503 knockout (Zfp503-/-) and heterozygous (Zfp503+/-) mice.
- Ophthalmic examinations, including fundus photography, fluorescein angiography, and optical coherence tomography (OCT).
- Histopathological analysis (H&E staining) and immunohistochemistry for Zfp503 expression in mouse and human fetal retinas.
Main Results:
- Zfp503-/- embryos exhibited anophthalmia and/or hypopigmented eyes, with postnatal non-viability and retinal pigment epithelium (RPE) defects.
- Zfp503+/- mice displayed atypical optic nerve head (ONH) coloboma, confirmed by various imaging techniques.
- Histopathology revealed optic fissure closure failure and potential retinal duplication in homozygotes, and ONH excavation in heterozygotes.
Conclusions:
- Zfp503 deficiency severely impacts eye development, leading to RPE abnormalities and non-viability in knockout mice.
- Heterozygous Zfp503 mice develop optic nerve coloboma, highlighting a haploinsufficiency effect.
- The study confirms ZNF503 expression in the developing human eye, suggesting conserved function.
