Aland Island Eye Disease

PROM mutation in CACNA1F

Also Known As:

Forsius-Eriksson Type Ocular Albinism

Networked: 7 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Eye Diseases: 3522
- Hereditary Eye Diseases: 18
  - Albinism: 486
    - Ocular Albinism: 92
      - Aland Island Eye Disease: 7
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Pigmentation Disorders: 149
    - Hypopigmentation: 836
      - Albinism: 486
        Ocular Albinism: 92
        Aland Island Eye Disease: 7
  - Genetic Skin Diseases: 47
    - Albinism: 486
      - Ocular Albinism: 92
        Aland Island Eye Disease: 7
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Amino Acid Metabolism: 1
      - Albinism: 486
        Ocular Albinism: 92
        Aland Island Eye Disease: 7

Related Diseases

1.	congenital stationary Night blindness
2.	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
3.	Familial Hypoadrenocorticism
4.	Leber Congenital Amaurosis
5.	Alstrom Syndrome

Experts

1.	Li, Deshun: 1 article (01/2020)
2.	Lv, Shuangjun: 1 article (01/2020)
3.	Wang, Ping: 1 article (01/2020)
4.	Ya, Pan: 1 article (01/2020)
5.	Yang, Dongsheng: 1 article (01/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Aland Island Eye Disease:

1.	Retinaldehyde (Retinal)IBA 05/01/1995 - "Clinical ophthalmic examination and electrodiagnostic studies of retinal function were fully compatible with a diagnosis of either incomplete congenital stationary night blindness or of Aland island eye disease. " 08/01/1995 - "The cone related components and the OP characteristics clearly distinguish iCSNB from the complete form of CSNB and other retinal conditions presenting with minimal fundus abnormalities but with negative bright-flash ERG responses, such as found in Duchenne muscular dystrophy and Aland Island eye disease. " 01/01/2020 - "In 46 patients, gene mutations were found to related to retinal disease, including 3 congenital stationary night blindness (CSNB), 14 achromatopsia (ACHM), 5 Aland Island eye disease (AIED), 7 Alstrom syndrome (AS), 11 Leber congenital amaurosis (LCA), 6 cone-rod dystrophy (CRD).Conclusions: Patients presenting with PLAHF usually had retinal disorders."
2.	HyperglycerolemiaIBA 07/01/1990 - "Complex glycerol kinase deficiency (CGKD) is a contiguous gene syndrome consisting of glycerol kinase deficiency together with Duchenne muscular dystrophy (DMD), congenital adrenal hypoplasia, and/or Aland Island eye disease. " 05/01/1990 - "Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia."
3.	Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)IBA 06/01/1993 - "The clinical phenotypes we studied in this chromosome region include: Xpter - Aland Island eye disease (AIED) -adrenal hypoplasia (AH) -glycerol kinase (GKD) -Duchenne muscular dystrophy (DMD) -retinitis pigmentosa (RP) -ornithine transcarbamylase (OTC) -centromere. "
4.	Glycerol KinaseIBA 06/01/1993 - "The clinical phenotypes we studied in this chromosome region include: Xpter - Aland Island eye disease (AIED) -adrenal hypoplasia (AH) -glycerol kinase (GKD) -Duchenne muscular dystrophy (DMD) -retinitis pigmentosa (RP) -ornithine transcarbamylase (OTC) -centromere. "
5.	Genetic Markers (Genetic Marker)IBA 06/01/1991 - "A large Danish family with Aland Island eye disease (AIED) was studied by linkage analysis using 16 polymorphic DNA markers covering the whole X chromosome. "