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Similarity to Incomplete Congenital Stationary Night Blindness

Richard G. Weleber, MD; De-Ann M. Pillers, MD, PhD; Berkley R. Powell, MD; Cheryl E. Hanna, MD; R. Ellen Magenis, MD; Neil R. M. Buist, MB, ChB

Arch Ophthalmol. 1989;107(8):1170-1179.

Abstract
• 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.

Author Affiliations
From the Departments of Ophthalmology (Dr Weleber), Pediatrics (Drs Pillers, Powell, Hanna, Magenis, and Buist), and Genetics (Drs Weleber, Magenis, and Buist), Oregon Health Sciences University, Portland.

Footnotes
Accepted for publication March 29, 1989.

Reprint requests to Department of Ophthalmology, Oregon Health Sciences University, 3181 SW Sam Jackson Park Rd, Portland, OR 97201 (Dr Weleber).

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