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Gene Review

AIED  -  Aland island eye disease (Forsius-Eriksson...

Homo sapiens

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Disease relevance of AIED

  • Aland Island eye disease (AIED) and X linked congenital stationary night blindness (CSNB) have been mapped to Xp11 [1].
  • 3. Patients have been described with deletions of the Duchenne muscular dystrophy (DMD) gene who also had a negative electroretinogram (ERG) similar to that seen in patients with CSNB and AIED [1].
  • Aland Island Eye Disease (AIED) is an X-linked form of ocular hypopigmentation--also known as Forsius-Eriksson, or type 2, ocular albinism--in which affected males demonstrate subnormal visual acuity, protanomalous red-green colorblindness, axial myopia, astigmatism, hypoplasia of the fovea, and hypopigmentation of the fundus [2].
  • RESULTS: Patients with AIED presented with rapidly progressive, frequently bilateral (79%), often fluctuating sensironeural hearing loss [3].
  • Conclusions: The results of this pilot trial demonstrate that in patients with AIED, transtympanic delivery of the TNF-alpha blocker infliximab once weekly for 4 weeks allowed steroids to be tapered off, resulted in hearing improvement and reduced disease relapses [4].

High impact information on AIED

  • Our data do not exclude the possibility that AIED and incomplete congenital stationary night blindness are caused by mutations in the same gene [5].
  • Aland Island eye disease (AIED) is an X-chromosomal disorder characterized by reduced visual acuity, progressive axial myopia, regular astigmatism, latent nystagmus, foveal hypoplasia, defective dark adaptation, and fundus hypopigmentation [5].
  • The syndrome was originally reported in 1964 in a family on the Aland Islands. To determine the localization of the AIED gene, linkage studies were performed in this family. total of 37 polymorphisms, covering loci on the entire X chromosome, were used [5].
  • By two-point analysis the strongest evidence for linkage was obtained between AIED and DXS255 (maximum lod score [Zmax] 4.92 at maximum recombination fraction [theta max] .00) [5].
  • A patient has previously been described who, in addition to AIED, manifested a contiguous gene syndrome which included congenital adrenal hypoplasia (AHC), glycerol kinase deficiency (GKD), and Duchenne muscular dystrophy (DMD) [2].

Chemical compound and disease context of AIED


Biological context of AIED

  • METHODS: A retrospective chart review was conducted on all patients considered to have AIED by the Otolaryngology division physicians and on all patients positive for antibody testing to inner ear antigens from 1990 to 1999 [3].

Anatomical context of AIED

  • BACKGROUND: Autoimmune inner ear disease (AIED) was first described in 1979 and the disease has become more widely recognized over the last decade [3].
  • Of those with fluctuating hearing loss, 15 were idiopathic, 3 had positive lymphocyte transformation tests (LTT) suggestive of autoimmune inner ear disease (AIED), and 4 had fistula on middle ear exploration [7].

Associations of AIED with chemical compounds

  • Successful use of PMP in one steroid and cytotoxic drug intolerant patient with AIED led to its use in a total of eight patients [8].
  • Methotrexate has emerged as the benchmark agent but has not been rigorously evaluated for hearing improvement in patients with AIED [9].
  • CONCLUSION: Methotrexate does not appear to be effective in maintaining the hearing improvement achieved with prednisone therapy in patients with AIED [9].

Other interactions of AIED

  • Eligibility required audiometric evidence of active AIED as indicated by idiopathic sensorineural hearing loss with threshold elevations within 3 months of enrollment [6].
  • Data from a guinea pig model of AIED and a recent open label trial of etanercept suggested potential treatment benefit [10].

Analytical, diagnostic and therapeutic context of AIED

  • The role of plasmapheresis (PMP) in the treatment of AIED has not been defined [8].
  • Although a number of diagnostic tests for AIED have been advocated, the diagnosis of this entity is still predicated on a positive therapeutic response to corticosteroid administration [11].
  • The study deals with a program for artificial insemination by means of cryopreserved donor sperm, conducted at AIED (Italian Association for Demographic Education) in Rome from 1983 to 1986 [12].
  • They also add a new dimension to our knowledge of AIED and may open new avenues in the development of simple serological assays, which are easier to perform and more rapid than Western blotting [13].


  1. Duchenne muscular dystrophy: negative electroretinograms and normal dark adaptation. Reappraisal of assignment of X linked incomplete congenital stationary night blindness. Jensen, H., Warburg, M., Sjö, O., Schwartz, M. J. Med. Genet. (1995) [Pubmed]
  2. Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy. Pillers, D.A., Towbin, J.A., Chamberlain, J.S., Wu, D., Ranier, J., Powell, B.R., McCabe, E.R. Am. J. Hum. Genet. (1990) [Pubmed]
  3. Immune-mediated inner ear disease: 10-year experience. Broughton, S.S., Meyerhoff, W.E., Cohen, S.B. Semin. Arthritis Rheum. (2004) [Pubmed]
  4. Local Perfusion of the Tumor Necrosis Factor alpha Blocker Infliximab to the Inner Ear Improves Autoimmune Neurosensory Hearing Loss. Van Wijk, F., Staecker, H., Keithley, E., Lefebvre, P.P. Audiol. Neurootol. (2006) [Pubmed]
  5. Localization of the Aland Island eye disease locus to the pericentromeric region of the X chromosome by linkage analysis. Alitalo, T., Kruse, T.A., Forsius, H., Eriksson, A.W., de la Chapelle, A. Am. J. Hum. Genet. (1991) [Pubmed]
  6. Serial audiometry in a clinical trial of AIED treatment. Niparko, J.K., Wang, N.Y., Rauch, S.D., Russell, G.B., Espeland, M.A., Pierce, J.J., Bowditch, S., Masuda, A., Gulya, A.J., Gantz, B.J., Hughes, G.B., Brookhouser, P.E., Hannley, M.T., Telian, S.A., Harris, J.P. Otol. Neurotol. (2005) [Pubmed]
  7. Pediatric fluctuating sensorineural hearing loss: problems in medical management. Dinces, E.A., Yang, S., Balogun, A.O. Laryngoscope (2001) [Pubmed]
  8. Theoretical and practical implications for plasmapheresis in autoimmune inner ear disease. Luetje, C.M. Laryngoscope (1989) [Pubmed]
  9. Treatment of corticosteroid-responsive autoimmune inner ear disease with methotrexate: a randomized controlled trial. Harris, J.P., Weisman, M.H., Derebery, J.M., Espeland, M.A., Gantz, B.J., Gulya, A.J., Hammerschlag, P.E., Hannley, M., Hughes, G.B., Moscicki, R., Nelson, R.A., Niparko, J.K., Rauch, S.D., Telian, S.A., Brookhouser, P.E. JAMA (2003) [Pubmed]
  10. Etanercept treatment for autoimmune inner ear disease: results of a pilot placebo-controlled study. Cohen, S., Shoup, A., Weisman, M.H., Harris, J. Otol. Neurotol. (2005) [Pubmed]
  11. Autoimmune inner ear disease. Ruckenstein, M.J. Current opinion in otolaryngology & head and neck surgery. (2004) [Pubmed]
  12. Artificial insemination with donor cryopreserved semen: importance of the volume of semen and influence of ovulatory dysfunctions. Painvain, E., Barlese, M.G., Sanna, F. Acta Eur. Fertil. (1989) [Pubmed]
  13. Inner ear autoantibodies and their targets in patients with autoimmune inner ear diseases. Boulassel, M.R., Deggouj, N., Tomasi, J.P., Gersdorff, M. Acta Otolaryngol. (2001) [Pubmed]
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