Tüm Tiplere DönOMIM #608553
LCA9
NMNAT1
Nicotinamide nucleotide adenylyltransferase; essential for NAD biosynthesis in photoreceptors
Henüz Hedefli Tedavi Yok
Kromozomal Lokus
1p36.22
Kalıtım
Otozomal Resesif
Sıklık
<1% LCA vakalarının
Temel Klinik Özellikler
- 1Severe macular atrophy (macular coloboma-like lesion)
- 2Vision loss from infancy
- 3Progressive macular degeneration is characteristic
Sources: