Rinx Disease (VSX1 Mutation) 1
General: Mutation of the homeobox transcription factor gene VSX1 (RINX) Wide interpupillary distance; hypertelorism; anomalies of corneal endothelium; abnormal cone bipolar cells
Clinical:Empty sella turcica; posterior fossa cyst; anterior encephalocele; hypertelorism; hydrocephalus
Mintz-Hittner HA, Semina EV, Frishman LJ, et al. VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes and abnormal retinal and auditory bipolar cells. Ophthalmology 2004; 111: 828-836.
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