Kenny-Caffey Syndrome
Main Features
- Short stature, hypoparathyroidism, skeletal defects
Eye Findings
- Refractive
- hyperopia, myopia,astigmatism
- Anterior Segment
- corneal opacity, keratopathy, cataracts
- Posterior Segment
- retinopathy, pseudopapilledema and other optic nerve anomalies, glaucoma, tortuous retinal vessels
- Globe: Microphthalmia
- Vision: Amblyopia
- Strabismus
Other Findings
- Intellectual disability
- Chronic kidney disease
Etiology
- Tubulin-specific chaperone E gene (TBCE)- KCS1
- 111 member A gene (FAM111A)- KCS2