C168587Level 9
Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities
**Semantic type:** Disease or Syndrome
**Definition:** An autosomal dominant condition caused by mutation(s) in the ITM2B gene, encoding integral membrane protein 2B. It is characterized by progressive loss of central vision, and inner retinal dystrophy with ganglion cell abnormalities.
**Synonyms:** - RDGCA
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