Cell atlas of the human ocular anterior segment: Tissue-specific and shared cell types

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Updated February 14, 2025

The anterior segment of the eye consists of the cornea, iris, ciliary body, crystalline lens, and aqueous humor outflow pathways. Together, these tissues are essential for the proper functioning of the eye. Disorders of vision have been ascribed to defects in all of them; some disorders, including glaucoma and cataract, are among the most prevalent causes of blindness in the world. To characterize the cell types that compose these tissues, we generated an anterior segment cell atlas of the human eye using high-throughput single-nucleus RNA sequencing (snRNAseq). We profiled 195,248 nuclei from nondiseased anterior segment tissues of six human donors, identifying >60 cell types. Many of these cell types were discrete, whereas others, especially in the lens and cornea, formed continua corresponding to known developmental transitions that persist in adulthood. Having profiled each tissue separately, we performed an integrated analysis of the entire anterior segment, revealing that some cell types are unique to a single structure, whereas others are shared across tissues. The integrated cell atlas was then used to investigate cell type–specific expression patterns of more than 900 human ocular disease genes identified through either Mendelian inheritance patterns or genome-wide association studies.

Wenjun YanHarvard Universitywey334@g.harvard.edu
Wenjun Yan (Experimental Scientist)1
1Harvard University
Rachel Schwartz

To reference this project, please use the following link:

https://explore.data.humancellatlas.org/projects/16e99159-78bc-44aa-b479-55a5e903bf50
None
INSDC Project Accessions:
GEO Series Accessions:
INSDC Study Accessions:

Atlas

None

Analysis Portals

CZ CELLxGENE
CZ CELLxGENE

Project Label

ocularAnteriorSegmentAtlas

Species

Homo sapiens

Sample Type

specimens

Anatomical Entity

3 anatomical entities

Organ Part

8 organ parts

Selected Cell Types

Unspecified

Disease Status (Specimen)

normal

Disease Status (Donor)

6 disease statuses

Development Stage

11 development stages

Library Construction Method

10x 3' v3

Nucleic Acid Source

single nucleus

Paired End

false

Analysis Protocol

cellranger_analysis

File Format

3 file formats

Cell Count Estimate

195.2k

Donor Count

22
csv.gz6 file(s)fastq180 file(s)xlsx1 file(s)
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