which the cystic kidney disease is associated with retinal dystrophy (retinitis pigmentosa or Leber congenital amaurosis). It is a deleterious disease that culminates in blindness and renal failure. Visual prognosis is usually poor and no definite treatment is available to date. However, renal transplantation appears to be the best option for the end stage renal failure (ESRF) [1–5]. This clinical association wasdescribed for the first time in 1961, in many patients and by two authors separately [1,2]. Consequently, more cases have been reported worldwide [6–8], including affected individuals in two separate unrelated families from Qatar and Saudi Arabia [9,10], being two Arabian Gulf countries, with a population that share the gene pool with the Arab population of Kuwait.