Commentary Open Access
Volume 2 | Issue 1 | DOI: https://doi.org/10.33696/Ophthalmology.2.005
Comment on “Retinitis Pigmentosa and Molar Tooth Sign Caused by Novel AHI1 Compound Heterozygote Pathogenic Variants: A Case Report”
Qing Lv1, Ailian Du1,*
- 1Department of Neurology, Tongren Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200336, China
Corresponding Author
Ailian Du
Email: 732002780@shsmu.edu.cn
Received Date: March 20, 2022
Accepted Date: April 07, 2022
Lv Q, Du A. Comment on “Retinitis Pigmentosa and Molar Tooth Sign Caused by Novel AHI1 Compound Heterozygote Pathogenic Variants: A Case Report”. Arch Clin Ophthalmol. 2022;2(1):1-2.
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Comment on “Retinitis Pigmentosa and Molar Tooth Sign Caused by Novel AHI1 Compound Heterozygote Pathogenic Variants: A Case Report”
Joubert syndrome (JS) is a rare congenital neurodevelopmental disease which is basically a primary Ciliopathy. It’s characteristic manifestation on imaging is so called ‘molar tooth sign’ in the brainstem and cerebellum. JS can involve multiple organs, mainly including retina, kidney, bone and liver. Clinical signs of early onset JS include hypotonia, developmental delay, breathing abnormalities, and ocular motor apraxia.