Conditions & Treatments

Paediatric Genetic Eye Disorders - Treatments

Eventually, genetic testing will assist in potential genetic therapy for the child that might be available in future.

Case Examples

Example 1:

Julie, a 3-month old baby girl, presented to the clinic after her parents noticed funny eye movements since birth. There was no history of poor vision or eye disease in the family. Julie was noted to have roving eye movements and poor visual response. The examination of retina showed atrophic changes. Electrophysiological testing showed that she had poor functions of rod and cone cells in the retina. After discussion with parents, genetic test for common genes associated with early onset rod-cone dystrophy in children (i.e. Lebers Congenital Amaurosis) was sent.

The genetic test was positive for one of the genes associated with Lebers Congenital Amaurosis. It helped to reach accurate diagnosis, identified the future progression of condition as well as to look for any associated systemic disorders.

Example 2:

Myra, a 7-year-old girl with Down syndrome has been wearing glasses for astigmatism for the past year. On her recent visit to the eye centre, astigmatism power had increased. Due to higher risk of corneal degenerative condition called keratoconus associated with children with Down syndrome, further investigations were carried out. Myra was found to have early onset keratoconus and underwent treatment to slow the progression. As in this case, screening of associated eye conditions in different syndromes and systemic conditions help in early detection and management of these conditions.