X-linked Congenital Stationary Night Blindness

Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome.

“…There is no evidence of albinism. One of our affected subjects did not have detectable nystagmus and another developed this sign between the ages of 15 and 23 years, consistent with the documenting of nystagmus in11 out of 13 affected males by Rosenberg et al,3 and in all the affected males from the original family of Elenius et al2…”

“…A greater body of mapping data exists for CSNB1 in which many more families have been studied. Assignment of this locus to the 11 …”