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Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease with incidence of 1 in 5-10,000 live births and is caused by homozygous deletion of exons 7 and 8 in the SMN1 gene [1]. Isolated exon 8 deletion has been reported in only one case series [2]. It is characterized by symmetrical proximal weakness; although, extraocular muscles are typically spared, there are a few case reports of associated external ophthalmoplegia [3,4] and one case report with optic atrophy [5]. We report a boy with SMA type 1 with optic atrophy due to isolated deletion of exon 8 of the SMN gene.

Spinal Muscular Atrophy Type 1 With Exon 8 Deletion and Bilateral Optic Atrophy