Trait

Corneal crystals

Refractile, glittering, or needle-shaped particles said to resemble crystals and located within the corneal epithelium and/or stroma, visible on slit-lamp examination, resulting from the focal accumulation of lipid, protein, or other metabolic material.

HPO HP:0000531

Also called: Corneal deposits
Body system: Abnormality of the eye

This page as data

Add .json to the page's address, or ask for application/json, to read it as JSON.

library(jsonlite)

url <- "https://dantelabs.com/traits/corneal-crystals.json"
page <- fromJSON(url)
page$trait$name

Open the JSON

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4 genes linked to Corneal crystals

Changes in these genes cause rare conditions in which Corneal crystals is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

Gene	How often it is seen	Conditions
CTNScystinosin, lysosomal cystine transporter	Always	In 6 conditions
CHST6carbohydrate sulfotransferase 6	Very often (80–99%)	In 1 condition
TGFBItransforming growth factor beta induced	Very often (80–99%)	In 2 conditions
CYP4V2cytochrome P450 family 4 subfamily V member 2	Often (30–79%)	In 2 conditions

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Broader traits

Opacification of the corneal stroma

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
Data release 2026.10.16-c6eea6bf.

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