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