A Rare Case of Joubert Syndrome with Pigmentary Retinal Degeneration
DOI:
https://doi.org/10.54536/ajmri.v5i2.3578Keywords:
Joubert Syndrome, Molar Tooth Sign, Ocular Abnormalities, Pigmentary Retinal Degeneration, Retinitis PigmentosaAbstract
Joubert syndrome is a rare genetic X-linked recessive disease that is inherited and characterized by hypotonia, ataxia, developmental delay, intellectual disability, a specific midbrain malformation known as the "Molar Tooth sign,". The case report presents a 20-year-old male with Joubert syndrome, characterized by cerebellar hypoplasia, hypotonia, developmental delays, and multiple organ involvement. Diagnostic assessments included neuroimaging, funduscopic examination, and laboratory tests to evaluate the multisystemic effects. The patient underwent multimodal treatment, including hemodialysis for renal failure, regular ophthalmologic evaluations, and genetic counseling to assess the hereditary nature of the condition and provide family planning advice. Retinal degeneration is associated with mutations in AH 11 and CEP290. Joubert syndrome is an uncommon pleiotropic condition that might manifest significantly in the eyes. This report necessitates the need for prompt diagnosis and management and to increase awareness about its complications.
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Copyright (c) 2026 Mohammad Ali Imtiaz, Amar Salman Dalol, Omar Al Qahtani, Devendra Kumar, Zamzam Al Baker, Rana Sabah Ismail
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