Novel ocular observations in a child with Joubert syndrome type 6 due to pathogenic variant in TMEM67 gene

Novel ocular observations in a child with Joubert syndrome type 6 due to pathogenic variant in TMEM67 gene

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...

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Bibliographic Details
Main Authors: Maram EA Abdalla Elsayed, Syed M. Ali, Carly Gardner, Igor Kozak
Format: Article
Language:English
Published: Elsevier 2024-12-01
Series:American Journal of Ophthalmology Case Reports
Subjects:
Joubert syndrome type 6
TMEM67 gene
Molar tooth sign
Batwing sign
Subretinal fibrosis
Epipapillary fibrosis
Online Access:http://www.sciencedirect.com/science/article/pii/S2451993624001014

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http://www.sciencedirect.com/science/article/pii/S2451993624001014

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