Back to All TypesOMIM #604232
LCA3
SPATA7
Spermatogenesis-associated protein 7; involved in ciliary function in photoreceptors
Preclinical Research
No clinical trial or company program. Academic proof-of-concept only: AAV8(Y733F)-mediated SPATA7 gene replacement slowed photoreceptor degeneration in a Spata7-knockout mouse model of LCA (Zhong et al., Gene Therapy 2015).
Sourced & cited — not yet expert-reviewed
Every statement here is backed by a cited primary source, but a specialist has not formally reviewed this page 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