Back to All TypesOMIM #613829
LCA7
CRX
Cone-rod homeobox transcription factor; critical for photoreceptor differentiation
Preclinical Research
No clinical trial or company program. Academic proof-of-concept only: AAV-CRX gene augmentation improved photoreceptor gene expression and outer-segment formation in patient iPSC-derived retinal organoids and mouse models (Kruczek et al., Stem Cell Reports 2021). Because many CRX cases are autosomal dominant, gene augmentation may not suffice for all variants — an area of ongoing research.
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
19q13.33
Inheritance
Autosomal Dominant
Frequency
~1% of LCA cases
Key Clinical Features
- 1Extensive clinical heterogeneity (including intrafamilial variability)
- 2Macular degeneration most prominent
- 3Can be autosomal dominant