Category: ADOA

Incidence and health burden of 20 rare neurological diseases in South China from 2016 to 2022: a hospital-based observational study

Orphanet J Rare Dis. 2025 Apr 8;20(1):163. doi: 10.1186/s13023-025-03704-5. ABSTRACT BACKGROUND: Rare neurological diseases (RNDs) result in severe health burdens worldwide. Data from China are limited. We aimed to investigate the health burden of 20 RNDs in Guangdong Province (GD), which contains two-thirds of the population of South China. METHODS: The hospitalization data of 20 […]

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 […]

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 […]

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 […]