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
