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OTX2
OTX2
Orthodenticle homeobox 2; a transcription factor critical for retinal photoreceptor development and bipolar cell differentiation. De novo heterozygous mutations can cause early-onset retinal dystrophy/LCA. Also associated with anophthalmia, microphthalmia, and pituitary dysfunction.
No Targeted Treatment Yet
Chromosomal Locus
14q22.3
Inheritance
Autosomal Dominant
Frequency
<1% of LCA cases
Key Clinical Features
- 1No official LCA subtype number assigned
- 2Autosomal dominant — typically de novo mutations
- 3Rare cause of LCA/early-onset retinal dystrophy
- 4Electronegative ERG suggesting photoreceptor and bipolar cell dysfunction
- 5Can be associated with pituitary dysfunction
Syndromic Associations
Patients with OTX2 mutations should be monitored for potential involvement of other organs:
- Microphthalmia syndromic 5 (MCOPS5)
- Pituitary hormone deficiency