Åland Islands Eye Disease

Description

Aland Island Eye Disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.

Clinical Features

Top most frequent phenotypes and symptoms related to Åland Islands Eye Disease

  • Intellectual disability
  • Short stature
  • Nystagmus
  • Myopia
  • Blindness
  • Abnormality of metabolism/homeostasis
  • Hypogonadism
  • Reduced visual acuity
  • Abnormality of the eye
  • Nyctalopia

And another 25 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Åland Islands Eye Disease Is also known as aied, forsius-eriksson type ocular albinism, forsius-eriksson syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Åland Islands Eye Disease Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Cone-Rod Dystrophy Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPGR, CNNM4, SEMA4A, TULP1, CFAP410, BEST1, RPGRIP1, CACNA1F, CDHR1, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, PITPNM3, CNGA3, CNGB3, EYS, ADAM9, CERKL , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Congenital Stationary Night Blindness Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RHO, GRK1, SAG, SLC24A1, CABP4, CACNA1F, LRIT3, GPR179, GNAT1, GNB3, GRM6, TRPM1, NYX, PDE6B, RDH5
Specificity
7 %
Genes
100 %
CACNA1F.

By Institute for Human Genetics University Clinic Freiburg (Germany).

CACNA1F
Specificity
100 %
Genes
100 %
CACNA1F mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

CACNA1F
Specificity
100 %
Genes
100 %
Aland Island eye disease (sequence analysis of CACNA1F gene).

By CGC Genetics (Portugal).

CACNA1F
Specificity
100 %
Genes
100 %
Cone-rod dystrophy (NGS panel of 36 genes).

By CGC Genetics (Portugal).

RGS9, RPGR, CNNM4, SEMA4A, BEST1, RPGRIP1, CABP4, CACNA1F, CDHR1, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, PITPNM3, CNGA3, CNGB3, ADAM9, CERKL, CRX , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Night blindness, congenital stationary (NGS panel of 13 genes).

By CGC Genetics (Portugal).

RHO, GRK1, SAG, SLC24A1, CACNA1F, LRIT3, GPR179, GNAT1, GNB3, GRM6, TRPM1, NYX, PDE6B
Specificity
8 %
Genes
100 %

We have 45 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WINCHESTER SYNDROME; WNCHRS WEBB-DATTANI SYNDROME; WEDAS KERATITIS, HEREDITARY HYPERPROLACTINEMIA; HPRL DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS; DURS3 HYPERTRICHOSIS, CONGENITAL GENERALIZED; HTC2

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