Inherited Eye Diseases Research Platform is affiliated to the State Key Laboratory Cultivation Base, Shandong Provincial Key Laboratory of Ophthalmology. The platform is established to enhance our understanding of the pathogenesis and to facilitate the translational research of the inherited eye diseases. Our study interests cover multiple eye diseases, including corneal dystrophy, keratoconus, cataract, age-related macular degeneration. The platform is equipped with large-scale sample storage facilities and state-of-the-art experimental equipment, and is readily to carry out high-standard research projects. The platform members host three National Natural Science Foundations and have published 13 SCI paper on genetic-related eye diseases.

1. Functional characterization of a novel GUCA1A missense mutation (D144G) in autosomal dominant cone dystrophy: A novel pathogenic GUCA1A variant in COD. Mol Vis. 2019

2. Mutation analysis of FBN1 gene in two Chinese families with congenital ectopia lentis in northern China. Int J Ophthalmol. 2019

3. Novel mutations in CRYBB1/CRYBB2 identified by targeted exome sequencing in Chinese families with congenital cataract. Int J Ophthalmol. 2018

4. De novo mutations of TUBA3D are associated with keratoconus. Sci Rep. 2017

5. A Chinese family with Axenfeld-Rieger syndrome: report of the clinical and genetic findings. Int J Ophthalmol. 2017

6. Mutation analysis of TGFBI and KRT12 in a case of concomitant keratoconus and granular corneal dystrophy. Graefes Arch Clin Exp Ophthalmol. 2017

7. Decreased Integrity, Content, and Increased Transcript Level of Mitochondrial DNA Are Associated with Keratoconus. PLoS One. 2016

8. Uncovering the profile of mutations of transforming growth factor beta-induced gene in Chinese corneal dystrophy patients. Int J Ophthalmol. 2016

9. Mutations in the TMCO3 Gene are Associated with Cornea Guttata and Anterior Polar Cataract. Sci Rep. 2016

10. Evaluating the Association between Keratoconus and Reported Genetic Loci in a Han Chinese Population. Ophthalmic Genet. 2015

11. Mitochondrial DNA copy number, but not haplogroup is associated with keratoconus in Han Chinese population. Exp Eye Res. 2015

12. Mutations in the ABCA3 gene are associated with cataract-microcornea syndrome. Invest Ophthalmol Vis Sci. 2014

13. Mutation analysis of paired box 6 gene in inherited aniridia in northern China. Mol Vis. 2013