Serous Retinal Detachment in Joubert Syndrome

Lau, Flora H. S.; Yu, Christopher B. O.; Yip, Wilson W. K.; Fan, Dorothy S. P.
November 2009
Journal of Pediatric Ophthalmology & Strabismus;Nov/Dec2009, Vol. 46 Issue 6, p362
Academic Journal
This report describes a 3-year-old Chinese--Italian boy with Joubert syndrome. Fundus examination showed bilateral optic disc coloboma. Left serous retinal detachment was also found. This ocular finding was not reported in the previous literature. Although Joubert syndrome has many variable phenotypes and the molecular basis is still unknown, the newly reported ocular features suggest that a different genetic form may be present. [J Pediatr Ophthalmol Strabismus 2009;46:362-364.]


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