Results 21 to 30 of about 8,209 (195)

ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings

BMC Ophthalmology, 2021
Background ALG3-CDG is a rare autosomal recessive disease. It is characterized by deficiency of alpha-1,3-mannosyltransferase caused by pathogenic variants in the ALG3 gene.
Martina Farolfi, Anna Cechova, Nina Ondruskova, Jana Zidkova, Bohdan Kousal, Hana Hansikova, Tomas Honzik, Petra Liskova   +7 more
doaj   +1 more source

Clinical observations of Leber hereditary optic neuropathy with and without neurological symptoms [PDF]

Анналы клинической и экспериментальной неврологии, 2022
Three case studies of adults with Leber hereditary optic neuropathy with and without neurological symptoms are presented. An elevated blood lactate level and changes in the activity of the mitochondrial enzymes in peripheral blood lymphocytes were noted.
Sergey V. Kotov, Olga P. Sidorova, Elena V. Borodataya, Irina A. Vasilenko, Alexander V. Borodin   +4 more
doaj   +1 more source

Pseudo-Foster Kennedy Syndrome due to unilateral optic nerve hypoplasia: a case report

Journal of Medical Case Reports, 2008
Introduction Pseudo-Foster Kennedy Syndrome is described as unilateral optic disc swelling with contralateral optic atrophy in the absence of an intracranial mass causing compression of the optic nerve.
Bansal Shveta, Dabbs Timothy, Long Vernon   +2 more
doaj   +1 more source

Septooptic Dysplasia with an Associated Arachnoid Cyst

Case Reports in Pediatrics, 2016
A 4-week-old male infant presented with hypothermia, hypoglycemia, and hyperbilirubinemia. His medical history was remarkable for hydrocephalus secondary to an arachnoid cyst, intermittent hypoglycemia, hypothermia, and poor feeding requiring nasogastric
Skyler V. McLaurin-Jiang, Julie K. Wood, David F. Crudo   +2 more
doaj   +1 more source

Septo-optic dysplasia with amniotic band syndrome sequence: a case report

Journal of Medical Case Reports, 2019
Introduction De Morsier syndrome, or septo-optic dysplasia, is a rare, heterogeneous, complex condition with a highly variable phenotype. It is characterized by optic nerve hypoplasia, pituitary gland hypoplasia, and midline brain abnormalities ...
Insiyah A. Amiji, Ummulkheir H. Mohamed, Adelina G. Rutashobya, Mariam Mngoya, Nicole Schoenmann, Helga E. Naburi, Karim P. Manji   +6 more
doaj   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa, Joana Rosa Marques Prota, Antonia Paula Marques‐de‐Faria, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell, Robert Geraghty, Juliana E. Arcila‐Galvis, Praveen Dhondurao‐Sudhindar, Sergio Foullerat Cañada, Fulvio D'Abrusco, Bosanka Jocic‐Jakubi, Miguel Barroso‐Gil, Valentina Serpieri, Thomas M. Kitzler, Kate E. Chandler, Eleanor G. Seaby, Gabrielle Wheway, Jennifer C. Dempsey, Dan Doherty, Enza M. Valente, John A. Sayer   +16 more
wiley   +1 more source

Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PAX6 encodes a dosage‐sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain malformations, and perinatal lethality.
Karl De Geer, Britt‐Marie Anderlid, Lena Jacobson, Daniel Martín Muñoz, Erik Björck   +4 more
wiley   +1 more source

Is there an encephalographic trait to septo-optic dysplasia? (de Morsier syndrome) [PDF]

Romanian Journal of Neurology, 2014
Objectives. Septo-optic dysplasia (SOD), also known as de Morsier syndrome is a rare con-genital syndrome involving variable midline brain structures, characterized by visual impairment, pituitary deficiencies and specific brain abnormalities (especially
Oana Tarta-Arsene, Madalina Leanca, Mona Gandea, Dana Craiu   +3 more
doaj   +1 more source