“Adrift From the World”: Exploring the Lived Experiences of Individuals Affected by an Inherited Optic Neuropathy in the United Kingdom-A Qualitative Study
Value Health. 2025 Aug 6:S1098-3015(25)02490-8. doi: 10.1016/j.jval.2025.07.023. Online ahead of print. ABSTRACT OBJECTIVES: Little is understood about the lived experiences of individuals affected by inherited optic neuropathies (IONs) in the United Kingdom. The aim of this study was to understand how autosomal dominant optic atrophy (DOA) and Leber hereditary optic neuropathy, the 2 more commonly […]
Natural History and Biomarker Challenges in Dominant Optic Atrophy: Implications for Therapeutic Studies
Clin Exp Ophthalmol. 2025 Aug;53(6):597-599. doi: 10.1111/ceo.14583. NO ABSTRACT PMID:40765395 | DOI:10.1111/ceo.14583
Case of autosomal dominant optic atrophy with relatively good visual function
BMC Ophthalmol. 2025 Aug 1;25(1):443. doi: 10.1186/s12886-025-04276-5. ABSTRACT BACKGROUND: Dominant optic atrophy (DOA) is an inherited optic neuropathy caused by mutations of the OPA1 gene. Patients with DOA have a gradual loss of vision that is often detected in early life. While most cases stabilize at around a decimal best-corrected visual acuity (BCVA) of 0.1, […]
Pigmented Paravenous Chorioretinal Atrophy (PPCRA)
Adv Exp Med Biol. 2025;1467:119-121. doi: 10.1007/978-3-031-72230-1_22. ABSTRACT As the name suggests, in pigmented paravenous chorioretinal atrophy (PPCRA), patches of chorioretinal atrophy and pigment clumping are distributed along the veins (Figs. 22.1 and 22.2). In most cases, the retinal vessels, macula, and optic discs are normal, and the disease is usually nonprogressive. PMID:40736824 | DOI:10.1007/978-3-031-72230-1_22
Autosomal dominant retinitis pigmentosa: An extended family report of the Asp-190-Tyr variant
Arch Soc Esp Oftalmol (Engl Ed). 2025 Oct;100(10):585-591. doi: 10.1016/j.oftale.2025.07.009. Epub 2025 Jul 21. ABSTRACT INTRODUCTION AND OBJECTIVES: Retinitis pigmentosa (RP) represents a spectrum of rod-cone inherited disorders with characteristic symptoms, and functional changes. The Asp-190-Tyr pathogenic variant of the RHO gene impairs rodopsin transport through the endoplasmic reticulum, leading to accumulation within photoreceptors, inducing […]
CRISPRa-Mediated Increase of OPA1 Expression in Dominant Optic Atrophy
Int J Mol Sci. 2025 Jul 2;26(13):6364. doi: 10.3390/ijms26136364. ABSTRACT Dominant Optic Atrophy (DOA) is the most common inherited optic neuropathy and presents as gradual visual loss caused by the loss of retinal ganglion cells (RGCs). Over 60% of DOA cases are caused by pathogenic variants in the OPA1 gene, which encodes a mitochondrial GTPase […]
Angioid streaks in hereditary spherocytosis associated with an SPTB gene variant
Doc Ophthalmol. 2025 Dec;151(3):255-261. doi: 10.1007/s10633-025-10039-w. Epub 2025 Jul 9. ABSTRACT PURPOSE: To report a case of hereditary spherocytosis (HS) carrying a pathogenic variant in the SPTB gene, presenting with angioid streaks (ASs) and central retinal dysfunction. METHODS: A 63-year-old female patient diagnosed with HS was evaluated using multimodal imaging, full-field and multifocal electroretinograms (ffERGs […]
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 […]