Dr.Vaishali Lalit Ooney, V08862
Aim To present the clinical profile and ocular findings in two cases of Jouberts syndrome .
Materials and methods Paediatric department of a tertiary centre referred babies for ocular examination.Both babies were diagnosed cases of Joubert s syndrome.It is an autosomal recessive disorder having neuroabnormalities in cerebellum and brainstem .The children had abnormal respiratory and nystagmus and developmental delay..Fundus examination showed pale retina .Though Jouberts syndrome is associated with retinal pigmentation changes ,these babies on presentation had none .MRI shows the molar tooth sign.Electroretino gram shows changes .
They have been advised follow up for improving their visual acuity
Conclusion Rare syndrome with ocular manifestation has to be given symptomatic treatment and improve refractive status
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