Paediatric Genetic Eye Disorders

Paediatric Genetic Eye Disorders - What it is

Paediatric genetic eye disorders are inherited conditions that passed down from parent to child. These can occur in isolation or as a part of complex syndrome affecting multiple body parts.

Though these genetic eye conditions are rare, they remain one of the leading causes of blindness and visual impairment in children. The complexity of these diseases along with the various associated syndromes requires a multidisciplinary approach for diagnosis and management.

Paediatric Genetic Eye Disorders - Symptoms

Symptoms vary depending on the type of eye disease. Some of the general symptoms include poor vision, shaky eyes (nystagmus), misalignment of the eyes (squint).

Paediatric Genetic Eye Disorders - How to prevent?

Paediatric Genetic Eye Disorders - Causes and Risk Factors

Genetic eye disorders can affect various structures of the eye, from the front to the back such as corneal dystrophies, aniridia, congenital glaucoma, pediatric cataracts, retinal dystrophies, and hereditary optic neuropathy.

Many systemic genetic diseases and syndromes such as Marfan syndrome, neurofibromatosis, mitochondrial disorders, and chromosomal abnormality syndromes (like Down's syndrome) have significant eye involvement too.

Paediatric Genetic Eye Disorders - Diagnosis

Diagnosis and management of these genetic eye conditions is usually challenging. History, eye examination and further investigations including imaging, visual field testing and electrophysiological tests help to reach diagnosis. Recent advances in molecular genetics have helped to identify a substantial number of genes associated with eye diseases.

Genetic testing can help to reach accurate diagnoses and thus provide information about prognosis, guide interventions for the child, and assist in counseling regarding risk of disease occurrence in subsequent children.

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.