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 […]
“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 […]