Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.

doi:10.1016/j.ophtha.2018.05.026

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Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.

Ophthalmology - 1 Dec 2018

Brooks Brian P, Zein Wadih M, Thompson Amy H, Mokhtarzadeh Maryam, Doherty Daniel A, Parisi Melissa, Glass Ian A, Malicdan May C, Vilboux Thierry, Vemulapalli Meghana, Mullikin James C, Gahl William A, Gunay-Aygun Meral

Abstract excerpt

PURPOSE: Joubert syndrome (JS) is caused by mutations in >34 genes that encode proteins involved with primary (nonmotile) cilia and the cilium basal body. This study describes the varying ocular phenotypes in JS patients, with correlation to systemic findings and genotype. DESIGN: Patients were systematically and prospectively examined at the National Institutes of Health (NIH) Clinical Center in the setting of a...

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Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.

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