---
title: Cystinosis
description: "Cystinosis is a rare metabolic disease where cystine crystals accumulate inside cells, particularly in kidneys and eyes. It can lead to kidney failure and significant photophobia. ## Ocular features Crystals deposit in several eye structures. - Shimmering corneal crystals causing…"
url: "https://bluefinvision.com/knowledge-base/topics/conditions-diseases/cystinosis/"
updated: "2025-12-17"
category: "Conditions & Diseases"
---

# Cystinosis

Cystinosis is a rare metabolic disease where cystine crystals accumulate inside cells, particularly in kidneys and eyes. It can lead to kidney failure and significant photophobia.

## Ocular features

Crystals deposit in several eye structures.

- Shimmering corneal crystals causing glare and light sensitivity
- Possible retinal, iris, and conjunctival involvement in long-standing disease
- Reduced vision if scarring or retinopathy develops
- Often diagnosed in childhood with accompanying renal Fanconi syndrome

## Management

Treatment aims to reduce cystine accumulation and protect organs.

- Systemic cysteamine therapy to slow kidney and systemic damage
- Topical cysteamine eye drops to dissolve corneal crystals and relieve photophobia
- Regular ophthalmic and nephrology follow-up
- Low-vision support if retinal changes are advanced