ArticleAmerican journal of ophthalmology case reports2024
Novel ocular observations in a child with Joubert syndrome type 6 due to pathogenic variant in
Article in American journal of ophthalmology case reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Purpose: To describe unique ocular features in a child with Joubert syndrome type 6. Observations: A 4-year-old male patient presented with right microphthalmia and non-dilating pupil and left primary position nystagmus. Brain MRI revealed a "molar tooth sign" of the midbrain and a "batwing sign" of the fourth ventricle along with large retroorbital cysts bilaterally. The diagnosis of autosomal recessive Joubert syndrome type 6 due to homozygous pathogenic variant c.725A > G p. (Asn242Ser) in Conclusions and Importance: We present a rare case of JS with some unique ophthalmic features which expand clinical knowledge on this complex systemic and ocular entity.
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