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 […]
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 […]
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 […]