Skip to main content

Human eye conditions: insights from the fly eye


The fruit fly Drosophila melanogaster has served as an excellent model to study and understand the genetics of many human diseases from cancer to neurodegeneration. Studying the regulation of growth, determination and differentiation of the compound eyes of this fly, in particular, have provided key insights into a wide range of diseases. Here we review the regulation of the development of fly eyes in light of shared aspects with human eye development. We also show how understanding conserved regulatory pathways in eye development together with the application of tools for genetic screening and functional analyses makes Drosophila a powerful model to diagnose and characterize the genetics underlying many human eye conditions, such as aniridia and retinitis pigmentosa. This further emphasizes the importance and vast potential of basic research to underpin applied research including identifying and treating the genetic basis of human diseases.

This is a preview of subscription content, access via your institution.

Fig. 1
Fig. 2
Fig. 3


Download references


PG and APM were funded by BBSRC Grant BB/M020967/1. IA has received funding from Apoyo a Unidades de Excelencia María de Maeztu from the Ministry of Economy, Industry and Competitiveness of Spain.

Author information

Authors and Affiliations


Corresponding author

Correspondence to Alistair P. McGregor.

Ethics declarations

Conflict of interest

On behalf of all authors, the corresponding author states that there is no conflict of interest.

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Gaspar, P., Almudi, I., Nunes, M.D.S. et al. Human eye conditions: insights from the fly eye. Hum Genet 138, 973–991 (2019).

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: