Blog 2

Blue Sclera

Blue sclera, characterized by a bluish tint of the sclera, is often a key clinical indicator of underlying systemic conditions, particularly those involving collagen or connective tissue abnormalities.
While it can occasionally be benign, such as in infants or the elderly due to physiological thinning of the sclera, it frequently necessitates further evaluation in other patient populations.

Aetiology:

Osteogenesis Imperfecta (OI):

The most common genetic cause, associated with mutations in the COL1A1 and COL1A2 genes, leading to defective type I collagen.

Ehlers-Danlos Syndrome (EDS):

Especially the vascular and classical types, where connective tissue fragility manifests with blue sclera among other systemic signs.

• Iron Deficiency Anaemia:

Severe cases can lead to scleral thinning, presenting as blue sclera
Chronic Steroid Use:
Prolonged use of topical steroids can thin the sclera

Clinical Considerations:

When blue sclera is observed, particularly in conjunction with systemic symptoms like:

frequent fractures,
joint hypermobility, or
cardiovascular abnormalities, a thorough investigation is warranted.

Genetic testing for

collagen-related disorders,
bone density evaluation, and
haematological assessment may be necessary.

Management:

Management is aetiology-specific

For OI, bisphosphonates and fracture prevention strategies are key.
In EDS, physical therapy and monitoring for vascular complications are crucial.

Addressing anaemia or modifying steroid use is essential for acquired causes.

Conclusion:

Blue sclera should prompt consideration of underlying systemic conditions, particularly connective tissue disorders.
Early identification and targeted management can significantly improve patient outcomes.

Dr. H. K. Saboowala. M.B.(Bom) M.R.S.H.(London) has dedicated his expertise to shedding light on these often overlooked, yet significant skin lesions, reminding us that every part of our body has a story to tell.

This blog invites readers to look beyond the surface and explore the deeper implications of what might seem like a simple skin spot, blending medical insight with an engaging narrative to capture attention and encourage informed health decisions.

About us

As a dedicated General Physician and
Dermatologist with over 45 years of practice
in Mumbai, I am deeply passionate about
advancing medical knowledge. Read More