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G. Ruberto, S. Signotini, C. Bertone, M. Suzani, M. Antonini, P. E. Bianchi; Clinical and Functional Findings in a Large Sample of Children Affected by Joubert Syndrome. Invest. Ophthalmol. Vis. Sci. 2010;51(13):4055.
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Depict clinical and functional results of children affected by Joubert Syndrome.
Joubert syndrome (JS) is a rare genetic disorder that affect the cerebellum. Some of these babies are at the same time affected by syndromic retinal degeneration, associated or not with mental retardation . In 26 children (mean age 7,2) diagnosed as JS affected by Mrn image of molar tooth sign a whole clinical and functional set of tests were performed. All subjects were examined by mean of complete ophthalmologic visit ( inclusive of visual acuity (VA) with Teller acuity cards or optotype, slit lamp and fundus) and short Electroretinonagraphy ( ERG) examination. ERG was performed in awake condition with a single registering electrode positioned at nasion. After 15 minutes dark adaptation mixed cone-rod response was registered and after 10 minutes light adaptation 30 hz response was recorded. Statistical analysis of mean values and "p" regarding ERG "a" and "b" waves amplitudes and latencies were done. VA and ERG data were matched with 35 normal subjects of similar mean age.
We found funduscopic retinal degeneration in 9 subject affected by JS . Mean VA was 4,02. Significant differences in ERG between JS children versus normals we found in "b" wave amplitude (16,02±10,1 versus 33,25±, "p" <0,03) and latencies (53,71± 8,4 versus 39,1±4,8, "p"<0,06). No other statistically significant differences were found , even tough a worse trend in JS children.
An interdisciplinary neuro-visual approach is worthwhile in order to a correct diagnosis and rehabilitation program in this rare disorder.
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