Scotoma

Alias:
Scotoma of Blind Spot Area
Enlarged Blind Spot
Generalized Visual Field Contraction or Constriction
Sector or Arcuate Visual Field Defects
Enlarged Paracaecal Scotoma
Blind Spot Area Scotoma
Enlarged Angioscotoma
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Scotoma, also known as enlarged blind spot, is related to optic atrophy 7 with or without auditory neuropathy and optic atrophy 9. An important gene associated with Scotoma is TMEM126A (Transmembrane Protein 126A), and among its related pathways/superpathways are Visual phototransduction and Complex I biogenesis. The drugs Ranibizumab and Growth Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include eye and cortex, and related phenotypes are nervous system and pigmentation
Related ID:
ICD11:261697880

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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24
197
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Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
No data available

Related Drugs

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Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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IF
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