A new variant in the UCHL1 gene supporting its implication in late-onset ataxia with optic atrophy
Neurol Sci. 2025 Dec 17;47(1):11. doi: 10.1007/s10072-025-08657-y. ABSTRACT BACKGROUND: UCHL1 encodes the neuronal protein UCH-L1, which plays a critical role in protein turnover Day (Prog Neurobiol 90(3):327-362, 2010). Variants in UCHL1 have been implicated in neurodegenerative disorders and hereditary spastic paraplegia (HSP) Mi (Ageing Res Rev 6:101856, 2023); Choi et al. (J Biol Chem 279(13):13256-64, […]
A novel NR2F1-associated microdeletion underlying Bosch-Boonstra-Schaaf optic atrophy syndrome
Ophthalmic Genet. 2025 Dec;46(6):671-674. doi: 10.1080/13816810.2025.2522365. Epub 2025 Jun 26. ABSTRACT BACKGROUND: Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare autosomal dominant neurodevelopmental disorder that typically presents in early childhood. It is characterized by intellectual disability, developmental delay, and visual impairment, with optic atrophy being the most prominent ophthalmologic feature. The nuclear receptor subfamily 2, […]
Pharmacologic Inhibition of YAP/TEAD and Development of New Chorioretinal Atrophy
JAMA Ophthalmol. 2025 Dec 4:e254213. doi: 10.1001/jamaophthalmol.2025.4213. Online ahead of print. ABSTRACT IMPORTANCE: As new chemotherapy agents emerge, ophthalmologists may play a role in identifying vision-threatening adverse effects. Inherited retinal degenerations can offer insight into the changes that may result from pharmacologic inhibition of the signaling pathways involved in these conditions. OBJECTIVE: To present a […]
The Neuro-Ophthalmologic Manifestations of SPG7-Associated Disease
J Pers Med. 2025 Oct 16;15(10):495. doi: 10.3390/jpm15100495. ABSTRACT The gene SPG7 codes for the protein paraplegin, a subunit of the m-AAA protease in the inner mitochondrial membrane involved in protein quality control. SPG7 was initially identified as causing autosomal recessive hereditary spastic paraplegia (HSP), with a pure (insidiously progressive bilateral leg weakness and spasticity) […]
Distinct genetic patterns and natural history of OPA1-related auditory neuropathy in Chinese population
Orphanet J Rare Dis. 2025 Oct 17;20(1):520. doi: 10.1186/s13023-025-04040-4. ABSTRACT BACKGROUND: Auditory neuropathy (AN) represents a clinical manifestation of OPA1-related diseases. The diagnostic process of these diseases is challenging owing to the broad spectrum of intermediate phenotypes and diverse inherited patterns. The aim of this study was to comprehensively delineate the feature of OPA1-related patients […]
Wolfram-like Syndrome: Shedding Light on a Variant of Wolfram Syndrome
AACE Endocrinol Diabetes. 2025 Jul 3;12(3):143-145. doi: 10.1016/j.aed.2025.06.008. eCollection 2025 Sep-Oct. ABSTRACT BACKGROUND: Wolfram-like syndrome is an autosomal dominant disorder related to classical autosomal recessive Wolfram syndrome. It is characterized by diabetes mellitus, optic atrophy, and sensorineural hearing loss, but typically presents with milder or incomplete features. These atypical and late-onset forms pose a diagnostic […]
A recurrent missense variant in the PPIB gene encoding peptidylprolyl isomerase B underlies adult-onset autosomal dominant optic atrophy
Genet Med. 2025 Oct 1:101595. doi: 10.1016/j.gim.2025.101595. Online ahead of print. ABSTRACT PURPOSE: Hereditary optic atrophy (OA) represents one of the leading causes of blindness. A relatively large number of genes, many of which are implicated in mitochondrial function, are known to be involved in OA. For many affected individuals, however, a genetic cause still […]
Models of Bosch-Boonstra-Schaaf optic atrophy syndrome reveal genotype-phenotype correlations in brain structure and behavior
Dis Model Mech. 2025 Oct 1;18(10):dmm052426. doi: 10.1242/dmm.052426. Epub 2025 Sep 22. ABSTRACT Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare, autosomal dominant neurodevelopmental disorder caused by pathogenic variants in NR2F1, characterized by developmental delay, intellectual disability, optic nerve anomalies and autism spectrum disorder. Most pathogenic variants cluster within the highly conserved DNA-binding domain (DBD) […]
Technological advances in the diagnosis and management of inherited optic neuropathies
Front Neurol. 2025 Jul 25;16:1609033. doi: 10.3389/fneur.2025.1609033. eCollection 2025. ABSTRACT Preferential degeneration of retinal ganglion cells (RGCs) is a defining feature of the inherited optic neuropathies (IONs), a group of monogenic eye diseases predominately comprising Leber hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (DOA). Their pathogenesis is characterised by mitochondrial dysfunction, which causes […]
The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas
Am J Ophthalmol. 2025 Dec;280:51-63. doi: 10.1016/j.ajo.2025.07.028. Epub 2025 Aug 6. ABSTRACT PURPOSE: The multicenter NIH-funded Undiagnosed Diseases Network (UDN) exists to diagnose puzzling and newly discovered conditions. We report the UDN’s assistance in diagnosing perplexing ocular disorders along with 6 case illustrations. DESIGN: Retrospective Interventional Case Series. SUBJECTS: Participants with ocular phenotypes who had […]