Back to All TypesOMIM #604232
LCA3
SPATA7
Spermatogenesis-associated protein 7; involved in ciliary function in photoreceptors
No Targeted Treatment Yet
Chromosomal Locus
14q31.3
Inheritance
Autosomal Recessive
Frequency
~3% of LCA cases
Key Clinical Features
- 1Severe visual impairment from infancy
- 2Ciliopathy-related photoreceptor degeneration
Sources: