Dr.Basant Khandelwal, K18133, Dr. Varshini Shanker
Myelinated retinal nerve fibers are developmental anomalies that are present in approximately 1% of all eyes. We present the case of 5 year old male who was diagnosed to have craniosynostosis, facial asymmetry and right head tilt with right face turn. Fundoscopy revealed retinal myelinated nerve fibres in left eye. Subsequent examination of the patient’s father revealed similar myelinated nerve fibres in left eye along with craniosynostosis. Familial myelinated retinal nerve fibres have been reported with proliferative vitreoretinopathy. A case series of patients with myelinated retinal nerve fibres, myopia and amblyopia has been reported. There are, however, very few reports of familial myelination of retinal nerve fibres. To the best of our knowledge this is the first case of myelinated retinal nerve fibres associated with familial craniosynostosis.