Tüm Tiplere DönOMIM #612712
LCA13
RDH12
Retinol dehydrogenase; part of the visual cycle, converts all-trans-retinal
Preklinik Araştırma
Opus Genetics OPGx-RDH12 in partnership with Global RDH12 Alliance. IND filing planned late 2025, first patient expected Q4 2026.
Kromozomal Lokus
14q24.1
Kalıtım
Otozomal Resesif
Sıklık
~10% LCA vakalarının
Temel Klinik Özellikler
- 1LCA phenotype with significant disease progression in adolescence
- 2Early, peripherally progressive macular atrophy with watercolor-like pattern