Retinal vasculopathy in autosomal dominant dyskeratosis congenita due to TINF2 mutation.

The article presents a case study of a four-year-old boy with autosomal dominant dyskeratosis congenital (DC) and bone marrow failure (BMF) underwent routine ophthalmological assessment prior to matched unrelated haematopoietic stem cell transplantation (HSCT). His father had undergone a sibling-HSCT and the patient's telomere length was assessed by fluorescence in situ hybridization. The patient was diagnosed as neurologically normal after 9 months of HSTC