The retro-inverso form of the TAT sequence is effective in transducing cells from various compartments of the eye. After 14 days, the D-TAT FITC was clearly visible in the retina whereas L-TAT FITC had almost disappeared. The D-TAT peptide represents an interesting molecular transporter that, when coupled to a specific effector, may have potential therapeutic future, especially when a long-lasting action is needed.
As reported, the classical c.2860C>T mutation represents a hotspot for mutation in various ethnic groups, including Swiss, Turkish, French, and Iranian patients. Sporadic cases are often due to neo-mutations as in our case. Mutation analysis is important, especially in sporadic cases, to correctly evaluate recurrence and transmission risks.
In one family, the M129T heterozygous mutation was observed in KRT12. In the second family, we identified a novel I426S heterozygous mutation in exon 6 of KRT12.
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