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LCA12

RD3

Retinal degeneration 3; involved in guanylate cyclase trafficking

No Targeted Treatment Yet

Chromosomal Locus

1q32.3

Inheritance

Autosomal Recessive

Frequency

<1% of LCA cases

OMIM #610612

Key Clinical Features

  • 1Very rare
  • 2Severe early-onset retinal degeneration
  • 3Guanylate cyclase trafficking defect

Sources: