Stephanie F. Wang
Current Organizations / Institutes
The organizations/institutes from the scholar's latest article
Research Subjects
Research Interests
Stephanie F. Wang has a total of 6 co-authors. Here are the top co-authors by number of shared publications:
- Albert Y. Wu
Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, California, U.S.A.
1 shared publication - Euna B. Koo
Department of Ophthalmology, Byers Eye Institute, Horngren Family Vitreoretinal Center, Stanford University School of Medicine, Palo Alto, CA 94303, USA
1 shared publication - Ke Ning
Department of Ophthalmology, Stanford University School of Medicine , 1651 Page Mill Road, Rm 2220, Palo Alto, CA 94304
1 shared publication - Tia J. Kowal
Department of Ophthalmology, Stanford University School of Medicine, 1651 Page Mill Road, Palo Alto, CA 94305, USA
1 shared publication - Vinit B. Mahajan
Molecular Surgery Laboratory, Stanford University, Palo Alto, USA
1 shared publication - Yang Sun
Department of Ophthalmology, Stanford University School of Medicine
1 shared publication
Latest Publications
- Open Access
Review of Ocular Manifestations of Joubert Syndrome
Joubert syndrome is a group of rare disorders that stem from defects in a sensory organelle, the primary cilia. Affected patients often present with disorders involving multiple organ systems, including the brain, eyes, and kidneys. Common symptoms include breathing abnormalities, mental developmental delays, loss of voluntary muscle coordination, and abnormal eye movements, with a diagnostic “molar tooth” sign observed by magnetic resonance imaging (MRI) of the midbrain. We reviewed the ocular phenotypes that can be found in patients with Joubert syndrome. Ocular motor apraxia is the most frequent (80% of patients), followed by strabismus (74%) and nystagmus (72%). A minority of patients also present with ptosis (43%), chorioretinal coloboma (30%), and optic nerve atrophy (22%). Although mutations in 34 genes have been found to be associated with Joubert syndrome, retinal degeneration has been reported in only 38% of patients. Mutations in AHI1 and CEP290, genes critical to primary cilia function, have been linked to retinal degeneration. In conclusion, Joubert syndrome is a rare pleiotropic group of disorders with variable ocular presentations.
Open AccessReview of Ocular Manifestations of Joubert Syndrome
Joubert syndrome is a group of rare disorders that stem from defects in a sensory organelle, the primary cilia. Affected patients often present with disorders involving multiple organ systems, including the brain, eyes, and kidneys. Common symptoms include breathing abnormalities, mental developmental delays, loss of voluntary muscle coordination, and abnormal eye movements, with a diagnostic “molar tooth” sign observed by magnetic resonance imaging (MRI) of the midbrain. We reviewed the ocular phenotypes that can be found in patients with Joubert syndrome. Ocular motor apraxia is the most frequent (80% of patients), followed by strabismus (74%) and nystagmus (72%). A minority of patients also present with ptosis (43%), chorioretinal coloboma (30%), and optic nerve atrophy (22%). Although mutations in 34 genes have been found to be associated with Joubert syndrome, retinal degeneration has been reported in only 38% of patients. Mutations in AHI1 and CEP290, genes critical to primary cilia function, have been linked to retinal degeneration. In conclusion, Joubert syndrome is a rare pleiotropic group of disorders with variable ocular presentations.