| H00690 | |
| H number | H00690 |
| Name | Aland Island eye disease; Forsius-Eriksson syndrome |
| Description | Aland Island eye disease (AIED) is an X-linked form of ocular hypopigmentation. Affected males demonstrate nystagmus, decreased visual acuity, myopia, astigmatism, achromatopsia, and fundus hypopigmentation. |
| Category | Nervous system disease |
| Network | - |
| Gene | CACNA1F [HSA:778] [KO:K04853] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 9B7Y ICD-10: H35.5 MeSH: C562664 OMIM: 300600 |
| Reference | PMID:7612552 AUTHORS Hawksworth NR, Headland S, Good P, Thomas NS, Clarke A TITLE Aland island eye disease: clinical and electrophysiological studies of a Welsh family. JOURNAL Br J Ophthalmol 79:424-30 (1995) DOI:10.1136/bjo.79.5.424 PMID:2220819 AUTHORS Pillers DA, Towbin JA, Chamberlain JS, Wu D, Ranier J, Powell BR, McCabe ER TITLE Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy. JOURNAL Am J Hum Genet 47:795-801 (1990) PMID:2667510 AUTHORS Weleber RG, Pillers DA, Powell BR, Hanna CE, Magenis RE, Buist NR TITLE Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness. JOURNAL Arch Ophthalmol 107:1170-9 (1989) DOI:10.1001/archopht.1989.01070020236032 PMID:17525176 AUTHORS Jalkanen R, Bech-Hansen NT, Tobias R, Sankila EM, Mantyjarvi M, Forsius H, de la Chapelle A, Alitalo T TITLE A novel CACNA1F gene mutation causes Aland Island eye disease. JOURNAL Invest Ophthalmol Vis Sci 48:2498-502 (2007) DOI:10.1167/iovs.06-1103 |