Additional genes implicated in JS-related ptosis include AHI1, CEP290, KIAA586, RPGRIP1L, TMEM67, INPP5E, KIAA0556, and MSK1 (Figure 4), although one recent series did not find ptosis in subjects with mutations of AHI1 or KIAA0586 [35]. The gene discussed is RPGRIP1L; the disease is ptosis.