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LCA6

RPGRIP1

Retinitis pigmentosa GTPase regulator-interacting protein; photoreceptor connecting cilium

No Targeted Treatment Yet

Chromosomal Locus

14q11.2

Inheritance

Autosomal Recessive

Frequency

~6% of LCA cases

OMIM #613826

Key Clinical Features

  • 1Initial rapid decline followed by stabilization
  • 2Preserved macular architecture with outer nuclear layer into adulthood

Sources: