Frequency and Hearing Loss Phenotypes of OPA1 Variants in a Cohort of 18,475 Patients with Hearing Impairment
Genes (Basel). 2026 Mar 19;17(3):341. doi: 10.3390/genes17030341. ABSTRACT BACKGROUND/OBJECTIVES: The OPA1 gene encodes a dynamin-related GTPase essential for mitochondrial fusion. Variants in OPA1 are a major cause of autosomal dominant optic atrophy (DOA). A subset of DOA patients exhibits hearing loss, often manifesting as auditory neuropathy spectrum disorder (ANSD). In this study, we aimed to […]
Generation of BBSOAS patient-specific induced pluripotent stem cell lines harboring six NR2F1 pathogenic variants
Stem Cell Res. 2026 Mar 10;93:103950. doi: 10.1016/j.scr.2026.103950. Online ahead of print. ABSTRACT Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) is a rare autosomal dominant neurodevelopmental disorder caused by mutations or deletions in NR2F1, leading to intellectual disability, developmental delay, visual impairments, epilepsy, hypotonia, and autistic traits. We generated six novel human induced pluripotent stem cell (hiPSC) […]
Concomitant dominant optic atrophy and juvenile glaucoma in two siblings with a novel OPA1 splicing variant
Doc Ophthalmol. 2026 Feb;152(1):97-102. doi: 10.1007/s10633-025-10079-2. Epub 2026 Jan 13. ABSTRACT PURPOSE: We report the clinical history of two siblings, initially diagnosed with juvenile glaucoma (JG), who were subsequently found to harbor a novel pathogenic OPA1 splicing variant consistent with dominant optic atrophy (DOA). METHODS AND RESULTS: The male proband presented with elevated intraocular pressure […]
Disrupted energy metabolism is associated with retinal ganglion cell degeneration in autosomal dominant optic atrophy
Sci Adv. 2026 Feb 20;12(8):eadx7815. doi: 10.1126/sciadv.adx7815. Epub 2026 Feb 18. ABSTRACT Autosomal dominant optic atrophy (ADOA) is a hereditary optic neuropathy caused by OPA1 variants, leading to retinal ganglion cell (RGC) degeneration and vision loss. The mechanisms behind RGC vulnerability to mitochondrial dysfunction remain unclear. We developed a patient-specific Opa1V291D/+ knock-in mouse model to […]
Expanded Phenotype of PAX2-Related Papillorenal Syndrome: A Case Featuring FSGS, Atypical Retinopathy, Cerebellar Hypoplasia, and ADHD
Clin Case Rep. 2026 Feb 11;14(2):e72023. doi: 10.1002/ccr3.72023. eCollection 2026 Feb. ABSTRACT Papillorenal syndrome (PAPRS), or renal coloboma syndrome, is a rare autosomal dominant disorder caused by PAX2 mutations. It classically manifests with renal hypodysplasia and optic nerve anomalies. However, recent literature suggests an expanding phenotypic spectrum. We report a 7-year-8-month-old boy born to consanguineous […]
A rare constellation of bilateral progressive visual and auditory loss in neurofibromatosis type 2: a multimodal diagnostic approach
Ann Med Surg (Lond). 2025 Dec 18;88(2):1913-1919. doi: 10.1097/MS9.0000000000004545. eCollection 2026 Feb. ABSTRACT BACKGROUND: Neurofibromatosis Type 2 (NF2) is a rare autosomal dominant disorder characterized by bilateral vestibular schwannomas and a spectrum of central and peripheral nervous system tumors. Early diagnosis can be challenging, particularly in the absence of classic skin findings or in resource-constrained […]
Pigmentary Retinopathy in Alagille Syndrome: Fundus Findings in a Two-Year-Old Boy
Diagnostics (Basel). 2026 Jan 12;16(2):241. doi: 10.3390/diagnostics16020241. ABSTRACT Alagille syndrome (ALGS) is a rare autosomal dominant multisystem disorder characterized by bile duct paucity, congenital heart defects, characteristic facial features, skeletal anomalies, and distinctive ocular findings. Although anterior segment anomalies such as posterior embryotoxon are well recognized, posterior segment involvement has recently gained attention. We present […]
A Case Report of Unilateral OPA3-Related Dominant Optic Atrophy
Case Rep Ophthalmol. 2025 Dec 11;17(1):81-86. doi: 10.1159/000550003. eCollection 2026 Jan-Dec. ABSTRACT INTRODUCTION: Autosomal dominant optic atrophy (DOA) is an inherited optic neuropathy characterized by progressive bilateral vision loss, cecocentral visual field (VF) defects, and retinal ganglion cell degeneration. Most cases are associated with OPA1 mutations, while OPA3-related DOA is rare and typically involves both […]
Volumetric brain analysis and associated retinal thinning in autosomal dominant optic atrophy patients
Neuroimage Rep. 2026 Jan 6;6(1):100314. doi: 10.1016/j.ynirp.2025.100314. eCollection 2026 Mar. ABSTRACT INTRODUCTION: Dominant optic atrophy (DOA) is an inherited mitochondrial disorder characterized by retinal thinning and progressive visual loss. When accompanied by additional neurological or systemic features, such as progressive external ophthalmoplegia, myopathy, or deafness, it is classified as DOA-plus (DOA+). Although central nervous system […]
SPG7-Related Neurologic Disorder
2006 Aug 24 [updated 2026 Jan 8]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. ABSTRACT CLINICAL CHARACTERISTICS: The phenotypic spectrum of SPG7-related neurologic disorder includes uncomplicated spastic ataxia, complicated spastic ataxia, spinocerebellar ataxia, and isolated optic nerve atrophy. Although […]