Disruption of mitochondrial homeostasis and permeability transition pore opening in OPA1 iPSC-derived retinal ganglion cells
Acta Neuropathol Commun. 2025 Feb 13;13(1):28. doi: 10.1186/s40478-025-01942-z. ABSTRACT Dominant optic atrophy (DOA) is the most common inherited optic neuropathy, characterised by the selective loss of retinal ganglion cells (RGCs). Over 60% of DOA cases are caused by pathogenic variants in the OPA1 gene, which encodes a dynamin-related GTPase protein. OPA1 plays a key role […]
Frequency and Pattern of Gene Therapy Clinical Trials for Inherited Retinal Diseases
Adv Exp Med Biol. 2025;1468:89-93. doi: 10.1007/978-3-031-76550-6_15. ABSTRACT This study describes worldwide gene therapy clinical trials aimed at treating inherited retinal diseases (IRD). The information was collected through 15 different international registries including clinicaltrials.gov . There have been 101 gene therapy clinical trials targeting IRD up until the end of 2022. Seventy-seven trials employed gene […]
The Heterozygous p.A684V Variant in the WFS1 Gene Is a Mutational Hotspot Causing a Severe Hearing Loss Phenotype
Genes (Basel). 2025 Jan 6;16(1):57. doi: 10.3390/genes16010057. ABSTRACT BACKGROUND/OBJECTIVES: A heterozygous mutation in the WFS1 gene is responsible for autosomal dominant non-syndromic hearing loss (DFNA6/14/38) and Wolfram-like syndrome, which is characterized by bilateral sensorineural hearing loss with optic atrophy and/or diabetes mellitus. However, detailed clinical features for the patients with the heterozygous p.A684V variant remain […]
Derivation and Characterization of Isogenic OPA1 Mutant and Control Human Pluripotent Stem Cell Lines
Cells. 2025 Jan 17;14(2):137. doi: 10.3390/cells14020137. ABSTRACT Dominant optic atrophy (DOA) is the most commonly inherited optic neuropathy. The majority of DOA is caused by mutations in the OPA1 gene, which encodes a dynamin-related GTPase located to the mitochondrion. OPA1 has been shown to regulate mitochondrial dynamics and promote fusion. Within the mitochondrion, proteolytically processed […]
Unraveling the genetic spectrum of inherited deaf-blindness in Portugal
Orphanet J Rare Dis. 2025 Jan 14;20(1):22. doi: 10.1186/s13023-025-03542-5. ABSTRACT BACKGROUND: Syndromic genetic disorders affecting vision can also cause hearing loss, and Usher syndrome is by far the most common etiology. However, many other conditions can present dual sensory impairment. Accurate diagnosis is essential for providing patients with genetic counseling, prognostic information, and appropriate resources. […]
Crouzon Syndrome
2025 May 25. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–. ABSTRACT Crouzon syndrome is a genetically inherited disorder characterized by multiple suture craniosynostosis (premature fusion of the coronal sutures), leading to skull and facial deformities. This condition was first described in 1912 by French physician Octave Crouzon, who identified both a mother […]
AFG3L2-Related Neurologic Disorders
2011 May 17 [updated 2025 Sep 18]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. ABSTRACT CLINICAL CHARACTERISTICS: AFG3L2-related neurologic disorders comprise four phenotypes. Spinocerebellar ataxia type 28 (SCA28), the most common phenotype, is characterized by young adult onset (26.5 […]
Machine Learning Applied to Visual Fields of Dominant Optic Atrophy Patients
Transl Vis Sci Technol. 2025 Jun 2;14(6):20. doi: 10.1167/tvst.14.6.20. ABSTRACT PURPOSE: Identification and quantification of characteristic visual field (VF) patterns in patients with dominant optic atrophy (DOA) using the archetypal analysis (AA) machine learning algorithm. METHODS: In this retrospective study, we collected 30-2 or 24-2 VFs performed with Humphrey Visual Field analyzer from 144 patients […]
TCIRG1-Related Osteopetrosis
2025 Aug 28. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. ABSTRACT CLINICAL CHARACTERISTICS: TCIRG1-related osteopetrosis is characterized by growth deficiency, pathologic fractures of dense but brittle bones, limping gait with bone pain, hypocalcemia that can result in seizures, and […]
Longitudinal Visual Biomarkers in Dominant Optic Atrophy: A Systematic Review and Meta-Analysis
Clin Exp Ophthalmol. 2025 Aug;53(6):652-659. doi: 10.1111/ceo.14543. Epub 2025 May 7. ABSTRACT BACKGROUND: Dominant Optic Atrophy (DOA) causes slowly progressive visual decline usually beginning in childhood. As new therapies come to clinical trial, the choice of biomarkers to be used as clinical trial endpoints has become a critical question to be addressed. METHODS: We undertook […]