Serous retinal detachment in Joubert syndrome.
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.
Lau
Flora H S
FH
Hong Kong Eye Hospital, The Chinese University of Hong Kong, Kowloon, Hong Kong, The People's Republic of China.
Yu
Christopher B O
CB
Yip
Wilson W K
WW
Fan
Dorothy S P
DS
D002524:Cerebellar Ataxia / Q000150:complications* / Q000175:diagnosis; D002531:Cerebellum / Q000002:abnormalities*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009123:Muscle Hypotonia / Q000150:complications* / Q000151:congenital / Q000175:diagnosis; D011596:Psychomotor Disorders / Q000150:complications* / Q000151:congenital / Q000175:diagnosis; D012163:Retinal Detachment / Q000175:diagnosis / Q000209:etiology*; D042262:Retinoscopy; D013577:Syndrome