---
title: Dyskeratosis congenita
description: "Dyskeratosis congenita is a telomere biology disorder causing bone marrow failure, mucocutaneous abnormalities, and increased cancer risk. Eye problems can occur as part of systemic disease. ## Ocular manifestations Features reflect surface and vascular fragility. - Dry eye, conjunctival scarring,…"
url: "https://bluefinvision.com/knowledge-base/topics/conditions-diseases/dyskeratosis-congenita/"
updated: "2025-12-17"
category: "Conditions & Diseases"
---

# Dyskeratosis congenita

Dyskeratosis congenita is a telomere biology disorder causing bone marrow failure, mucocutaneous abnormalities, and increased cancer risk. Eye problems can occur as part of systemic disease.

## Ocular manifestations

Features reflect surface and vascular fragility.

- Dry eye, conjunctival scarring, and lid margin abnormalities
- Corneal vascularisation or opacity in some patients
- Retinal vascular changes and haemorrhages reported in severe cases
- Often accompanied by nail dystrophy, skin pigmentation, and oral leukoplakia

## Management

Care is complex and multidisciplinary.

- Haematology oversight for marrow failure and transplant consideration
- Lubricants and surface therapies for ocular surface disease
- Monitoring for malignancies in skin, blood, and mucosa
- Genetic counselling due to inherited nature of telomere defects