Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee

ABSTRACT

This article is dedicated to Irene Hussels Maumenee, Professor of Human Genetics and Ophthalmology, Johns Hopkins’ Wilmer Eye Institute, Ocular Genetics Fellowship director in 1994–1995. Leber congenital amaurosis (LCA) has almost come full circle, from a profound and molecularly uncharacterized form of congenital retinal blindness to one in which a large number of causative genes and disease pathways are known, and the world’s first human retinal disease to be treated by gene therapy. Dr. Maumenee’s insights, efforts, and leadership have contributed significantly to this remarkable scientific journey. In this manuscript, we present a short summary of the known LCA genes, LCA disease subtypes, and emerging treatment options. Our manuscript consolidates previous knowledge with current findings in an attempt to provide a more comprehensive understanding of LCA.

KEYWORDS:

• Causal genes
• disease subtypes
• emerging treatment options
• Leber congenital amaurosis (LCA)

Acknowledgment

This article is dedicated to Irene Hussels Maumenee, Professor of Human Genetics and Ophthalmology, Johns Hopkins’ Wilmer Eye Institute, Ocular Genetics Fellowship director in 1994–1995.

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Funding

FFB–Canada, CIHR, FRSQ, and NIH to RKK.

Notes

* Snowflake vitreoretinal degeneration is a developmental and progressive hereditary multilayer eye disorder including fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment.

Additional information

Funding

FFB–Canada, CIHR, FRSQ, and NIH to RKK.