Figure 1.

Retinal imaging (colour fundus, FAF, OCT) and RPGR^ORF15 scheme. Colour fundus images (1–6, 1′–6′ represent follow-up), corresponding FAF (a–f, a’–f’ represent follow-up) and ring enlargement demonstration (a–f, a’–f’ represent follow-up), corresponding OCT (1–6, 1′-6′ represent follow-up) of all patients included in the study, from their first and last examination. Colour fundus images in BE of all the patients show Bull’s eye appearance of the macula, optic pallor, and attenuated vessels; Patient 1 in his LE (2 and 2′) also presents bone spicules in the central and peripheral retina due to retinal detachment. FAF in BE of all the patients show the hyperautofluorescent ring; Patient 1 in his LE (b and b’) also presents RPE mottling in the inferior temporal retina (after retinal detachment). All the patients showed the hyperautofluorescent ring enlargement displayed in Figure 4. OCT in BE of all the patients shows absent RPE, Ise, and ELM in the central macula; Patient 2 in his LE (d and d’) and Patient 3 in his BE (e and e’, f and f’) present remnants of ELM in the foveola. In the right part, schematic representation of the amino acid structure of the RPGR^ORF15 and the predicted effect of the mutation c.3457T>A (Ter1153Lysext*38) elongating the protein by 38 aminoacids, is being presented.