Diagnostic Enigma- Case presenting with unilateral bluish sclera

A Case presenting with unilateral bluish sclera has been reported by Dr K V. S Hari Kumar, Department of Endocrinology, Command Hospital, Panchkula, Haryana, India and colleagues. The case has been published in the Indian Journal of Endocrinology.

Blue sclera unilateral or bilateral may be idiopathic or due to various diseases like-

1. Marfan’s syndrome.
2. Ehler Danlos syndrome.
3. Hallerman Strieff syndrome.
4. Incontinenta pigmenti.
5. Iron deficiency anemia.
6. Associated with myasthenia gravis.
7. Blue sclera syndrome (Van der Heave syndrome)
8. Osteogenesis imperfecta.

In the present case, a 16-year-old boy presented to the emergency with an elbow fracture due to a fall on outstretched hand. He denied a history of recurrent fractures, deafness, skeletal deformities, and dentition abnormalities. His past medical history was otherwise normal and none of the immediate family members had a history of fractures.

Courtesy Indian Journal of Endocrinology

His systemic examination was unremarkable except for the fracture olecranon process on the right side. The ophthalmic examination of the patient revealed bluish sclera involving the right eye. His visual acuity, the field of vision, colour vision, pupillary reflexes, and extraocular movements were normal in both eyes. Skeletal survey and markers of bone metabolism were normal. He was diagnosed as a case of an idiopathic unilateral bluish sclera and was kept under follow-up.

Take home Points:-

• Unilateral bluish sclera is reported earlier with nevus depigmentosus, familial, and idiopathic in origin.The bluish sclera is associated with osteogenesis imperfecta, Marfan's syndrome, Ehlers Danlos syndrome, Blue sclera syndrome (Van der Heave syndrome), incontinentia pigmenti, and many other inherited conditions.


• The bluish hue of the sclera is due to the thinning of the collagen fibres and increased transparency which exposes the underlying uvea. The bluish sclera, therefore, is seen in many conditions with the defective type 1 collagen formation.


• Osteogenesis imperfecta is the classical condition associated with the bluish sclera. However, this patient did not have any features to suggest the same.


• It is essential to screen for musculoskeletal and connective tissue abnormalities in patients with blue sclera
  

For further reference log on to : DOI: 10.4103/ijem.IJEM_409_18