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 […]
Natural history of patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy
medRxiv [Preprint]. 2025 Feb 25:2025.02.23.25322342. doi: 10.1101/2025.02.23.25322342. ABSTRACT OBJECTIVE: Autosomal dominant pathogenic variants in the WFS1 gene can cause a broad spectrum of WFS1-related disorders. These disorders present with a range of phenotypic manifestations, including isolated low-frequency sensorineural hearing loss, optic nerve atrophy accompanied by low- to mid-frequency sensorineural hearing loss, isolated diabetes mellitus, and […]
A novel frameshift variant leads to familial osteopetrosis with variable phenotypes in a Chinese Han consanguineous family
BMC Med Genomics. 2025 Feb 24;18(1):36. doi: 10.1186/s12920-025-02101-y. ABSTRACT Osteopetrosis, a group of highly heterogeneous genetic bone disorders, is characterized by deafness, increased bone density, hepatosplenomegaly, pancytopenia and intellectual disability. Osteopetrosis can be divided into three subtypes: autosomal recessive osteopetrosis (ARO), intermediate autosomal recessive osteopetrosis (IARO), and autosomal dominant osteopetrosis (ADO). CLCN7 has been reported […]
Expanding the Phenotypic Spectrum of SPG7 Rare Damaging Variants: Insights From a Hungarian Cohort
Clin Genet. 2025 Aug;108(2):124-133. doi: 10.1111/cge.14719. Epub 2025 Feb 20. ABSTRACT Mitochondria-associated paraplegin dysfunction is primarily linked to spastic paraplegia; however, genetic alterations in SPG7 have been associated with a broader spectrum of clinical symptoms. To identify disease-causing variants in the SPG7 gene, 437 patients with spastic ataxia, mitochondrial dysfunction-associated symptoms, or motoneuron lesions detected […]
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 […]