Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness
R. G. Weleber, D. A. Pillers, B. R. Powell, C. E. Hanna, R. E. Magenis and N. R. Buist
Department of Ophthalmology, Oregon Health Sciences University, Portland 97201.
We report the ophthalmological findings of a 6-year-old boy who has
features of both Aland Island eye disease (also called Forsius-Eriksson
ocular albinism) and incomplete congenital stationary night blindness, as
defined by Miyake, leading us to suspect that they are the same entity.
This child has a deletion of part of band 21 of the short arm of the X
chromosome (Xp21) and three other X-linked disorders: congenital adrenal
hypoplasia, glycerol kinase deficiency, and Duchenne type muscular
dystrophy. The electroretinogram showed negative scotopic and abnormal
photopic waveforms that were similar, if not identical, to the
electroretinographic findings in both Aland Island eye disease and X-linked
incomplete congenital stationary night blindness. Because of this
similarity and the defective dark adaptometry that has been reported in
patients with this disorder, we believe that Aland Island eye disease is
more appropriately classified as a form of congenital night blindness than
as a form of ocular albinism. From our case and review of the literature,
Aland Island eye disease and incomplete congenital stationary night
blindness appear indistinguishable. If further studies confirm that the
disorders are the same, we recommend use of the term Aland Island eye
disease or Forsius-Eriksson-Miyake syndrome. We also recommend that the
gene symbols CSNB1 and CSNB2 be used for complete congenital stationary
night blindness and Aland disease, respectively.
