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 […]
Novel DNJ Derivative Ameliorates Cardiac Hypertrophy by Targeting OPA1 and Restoring Mitochondrial Health
Circ Res. 2025 Dec 29. doi: 10.1161/CIRCRESAHA.125.327407. Online ahead of print. ABSTRACT BACKGROUND: Pathological cardiac hypertrophy, an abnormal enlargement of cardiomyocytes and interstitial fibrosis in response to sustained injury or pressure overload, may lead to heart failure or even sudden death. Affected patients often also exhibit myocardial mitochondrial dysfunction and associated structural damage. Discovering more […]
If at first you don’t succeed, try, try again
Surv Ophthalmol. 2025 Jul-Aug;70(4):840-844. doi: 10.1016/j.survophthal.2025.01.011. Epub 2025 Feb 14. ABSTRACT A previously healthy 15-year-old Asian boy presented with progressive bilateral painless vision loss, dyschromatopsia, and visual field defects. Optical coherence tomography showed diffuse retinal nerve fiber layer thinning. Work-up including neuroimaging, lab testing for acquired bilateral optic atrophy, extensive mitochondrial and nuclear genetic testing […]
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 […]