Sneddon's syndrome with optic disc macroaneurysm and macular edema successfully treated with subtenon steroid injection

tified, and the severity and classification of disease correlate approximately with genotype. In this case, we found a novel mutation c.2T>A in exon 2 responsible for ND resulting in a missense mutation. The mutation affecting the initiation codon produced an AAG codon, which could not initiate translation. As the translation start site and its context sequence play an important role in the control of translation efficiency and the correct translation of mRNA, the c.2T>A mutation is expected to cause the failure of the start of ND gene translation or the production of an aberrant protein. Previous reported initiation codon point mutations, c.1_2delAAT, c.2_3delTG, c.1A>G (p.Met1Val) and c.2T>G (p.Met1Arg), have been reported to be responsible for ND (Isashiki et al. 1995; Schuback et al. 1995; Caballero et al. 1996; Zhang et al. 2013). All these patients have congenital blindness. The patients with c.1_2delAAT, c.2_3delTG and c.1A>G mutation remained unremarkable in ontological and neurological studies, while the patient with c.2T>G mutation had hearing loss and autistic features. In this case, both hearing problems and mental retardation were absent in two patients. We suppose that the differences in the mutations and the subsequent differences in the translation efficiency and aberrant protein products may contribute to the differences in clinical manifestation. In summary, we reported a novel missense NDP mutation of a familial case of ND in a Chinese family.