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WhatIsLCA
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LCA6

RPGRIP1

Retinitis pigmentosa GTPase regulator-interacting protein; photoreceptor connecting cilium

Henüz Hedefli Tedavi Yok

Kromozomal Lokus

14q11.2

Kalıtım

Otozomal Resesif

Sıklık

~6% LCA vakalarının

OMIM #613826

Temel Klinik Özellikler

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

Sources: