TY - JOUR
T1 - A°land Island Eye Disease (Forsius-Eriksson Syndrome) Associated With Contiguous Deletion Syndrome at xp21
T2 - Similarity to Incomplete Congenital Stationary Night Blindness
AU - Weleber, Richard G.
AU - Pillers, Ann M.
AU - Powell, Berkley R.
AU - Hanna, Cheryl E.
AU - Magenis, R. Ellen
AU - Buist, Neil R.M.
PY - 1989/8
Y1 - 1989/8
N2 - 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 supsect 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.
AB - 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 supsect 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.
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U2 - 10.1001/archopht.1989.01070020236032
DO - 10.1001/archopht.1989.01070020236032
M3 - Article
C2 - 2667510
AN - SCOPUS:0024405276
SN - 0003-9950
VL - 107
SP - 1170
EP - 1179
JO - Archives of ophthalmology
JF - Archives of ophthalmology
IS - 8
ER -