Ataxia-telangiectasia-like disorder-1 with ocular telangiectasia — A rare case report from India

Abstract Ataxia-telangiectasia-like disorder-1 (ATLD-1) is an autosomal recessive disorder that is classified as a chromosomal instability syndrome. It is caused by the homozygous or compound heterozygous variants of the MRE11 gene, which repairs the double-strand DNA damage induced by ionizing radiation and radiomimetic chemicals. ATLD-1 leads to progressive cerebellar degeneration, which manifests as cerebellar ataxia and oculomotor apraxia. Clinically, it resembles ataxia-telangiectasia (AT), albeit with a few differentiating features. Herein, we report the case of a 17-year-old boy with cerebellar ataxia and hand dystonia, who is the first reported case of ATLD-1 with ocular telangiectasia.