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Search Results (209)

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Keywords = nystagmus

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15 pages, 1019 KiB  
Case Report
Downbeat Nystagmus: Case Report, Updated Review, Therapeutics, and Neurorehabilitation
by T. Maxwell Parker, Ruben Jauregui, Scott N. Grossman and Steven L. Galetta
Brain Sci. 2025, 15(8), 859; https://doi.org/10.3390/brainsci15080859 - 13 Aug 2025
Viewed by 320
Abstract
Introduction: Downbeat nystagmus (DBN) is an ocular motor disorder characterized by persistent to-and-fro eye movements with a slow phase directed upwards and a corrective fast phase downwards. DBN in the context of myelin oligodendrocyte glycoprotein-associated disorder (MOGAD) represents a rare clinical presentation. [...] Read more.
Introduction: Downbeat nystagmus (DBN) is an ocular motor disorder characterized by persistent to-and-fro eye movements with a slow phase directed upwards and a corrective fast phase downwards. DBN in the context of myelin oligodendrocyte glycoprotein-associated disorder (MOGAD) represents a rare clinical presentation. Case Presentation: A 24-year-old male with MOGAD presented with DBN, status epilepticus, and longitudinally extensive transverse myelitis (LETM). Intervention: The clinical course, diagnostic findings, and management approach are described in detail within the full report. Outcomes: The patient at follow-up was able to ambulate independently, and his nystagmus had improved. He continued to demonstrate transient DBN on supine positioning and head-shaking test. Conclusions: This case report contributes to the understanding of DBN as a manifestation of MOGAD. The accompanying literature review examines the neuroanatomy, pathophysiology, and emerging therapeutic approaches for DBN, providing context for this unusual presentation. Full article
(This article belongs to the Special Issue At the Frontiers of Neurorehabilitation: 3rd Edition)
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13 pages, 1724 KiB  
Article
Correlation of Clinical Characteristics of Meniere’s Disease and Its Patient-Oriented Severity Index (MD POSI)
by Josip Novaković, Ana Barišić, Erik Šuvak, Emili Dragaš, Petar Drviš, Tihana Mendeš, Jakov Ajduk, Siniša Maslovara and Andro Košec
Audiol. Res. 2025, 15(4), 99; https://doi.org/10.3390/audiolres15040099 - 6 Aug 2025
Viewed by 187
Abstract
Background: Meniere’s disease is characterized by a triad of vertigo episodes, fluctuating hearing loss, and tinnitus. The disease is followed by a loss of quality of life in patients, with the severity depending on the individual and the stage of the disease. [...] Read more.
Background: Meniere’s disease is characterized by a triad of vertigo episodes, fluctuating hearing loss, and tinnitus. The disease is followed by a loss of quality of life in patients, with the severity depending on the individual and the stage of the disease. Since there are no quantitatively validated tests that connect all elements of the disease, the only source of subjective data that can be analyzed is the disease diary and questionnaires, among which the MDPOSI (Meniere’s Disease Patient-Oriented Symptom-Severity Index) stands out as a designated quality-of-life assessment tool. This study aims to evaluate the differences in the questionnaire depending on the clinical characteristics of the disease. Methods: The study recruited 60 patients, with clinical variables including age, gender, disease laterality, caloric testing results, and PTA results, the presence of spontaneous nystagmus, pathological values of calorimetric testing, or rotatory chair testing abnormalities. Results: The appearance of spontaneous nystagmus showed a significant association with worse hearing threshold values at 500 Hz (p = 0.036, OR 4.416) and higher. Worse SRT scores correlated with Q1 (p = 0.011), Q2 (p = 0.028), Q4 (p = 0.045), Q5 (p = 0.013), and the total MDPOSI score (p = 0.008, 0.339). Multivariate analysis showed that a higher total value of the MDPOSI questionnaire was statistically significantly associated with older age (p = 0.042) and spontaneous nystagmus (p = 0.037). Conclusions: There is a correlation between the clinical characteristics of Meniere’s disease and the MDPOSI questionnaire, making it useful for assessing quality of life and disease progression. Full article
(This article belongs to the Special Issue A New Insight into Vestibular Exploration)
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11 pages, 1043 KiB  
Review
GPR143-Associated Ocular Albinism in a Hispanic Family and Review of the Literature
by Anushree Aneja, Brenda L. Bohnsack, Valerie Allegretti, Allison Goetsch Weisman, Andy Drackley, Alexander Ing, Patrick McMullen, Andrew Skol, Hantamalala Ralay Ranaivo, Kai Lee Yap, Pamela Rathbun, Adam Gordon and Jennifer L. Rossen
Genes 2025, 16(8), 911; https://doi.org/10.3390/genes16080911 - 30 Jul 2025
Viewed by 433
Abstract
Background/Objectives: While ocular albinism (OA) is usually associated with reduced vision, nystagmus, and foveal hypoplasia, there is phenotypic variability in iris and fundus hypopigmentation. Hemizygous pathogenic/likely pathogenic (P/LP) variants in GPR143 at X: 151.56–151.59 have been shown in the literature to be associated [...] Read more.
Background/Objectives: While ocular albinism (OA) is usually associated with reduced vision, nystagmus, and foveal hypoplasia, there is phenotypic variability in iris and fundus hypopigmentation. Hemizygous pathogenic/likely pathogenic (P/LP) variants in GPR143 at X: 151.56–151.59 have been shown in the literature to be associated with OA. The purpose of this study was to report the case of a Hispanic male with X-linked inherited OA associated with a hemizygous GPR143 variant and to review the literature relating to genotype–phenotype associations with GPR143 and OA. Methods: After consent to an IRB-approved protocol, a 14-year-old Hispanic male patient with OA and his parents underwent whole genome sequencing (WGS) in 2023. Two maternal uncles with nystagmus underwent targeted variant testing in 2024. A literature review of reported GPR143 variants was completed. Results: A male with reduced visual acuity, infantile-onset nystagmus, foveal hypoplasia, and iris hypopigmentation was identified to have the variant GPR143, c.455+3A>G, which was also present in his mother and two affected maternal uncles. This variant has been previously identified in other Hispanic patients of Mexican descent. Additionally, 127 variants were identified in the literature and reported to be associated with OA. All patients had reduced visual acuity (average 0.71 ± 0.23 logMAR), 99% had nystagmus, 97% foveal hypoplasia, 79% fundus hypopigmentation, and 71% iris hypopigmentation. Of those patients with reported optotype best corrected visual acuity (BCVA), eight (9%) had VA from 20/25 to 20/40, 24 (24%) had VA from 20/50 to 20/80, and 63 (67%) had VA from 20/100 to 20/200. The most frequent type of variant was missense (31%, n = 39). Frameshift and nonsense variants were associated with the lowest rates of iris hypopigmentation (50% [n = 11] and 44% [n = 8], respectively; p = 0.0068). Conclusions: This case represents phenotypic variability of GPR143-associated OA and highlights the importance of repeat genetic testing and independent analyses of test results for accurate variant classification, particularly in non-White and Hispanic patients. Further studies in more diverse populations are needed to better develop genotype–phenotype associations for GPR143-associated OA. Full article
(This article belongs to the Section Human Genomics and Genetic Diseases)
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16 pages, 2054 KiB  
Article
Transformer-Based Detection and Clinical Evaluation System for Torsional Nystagmus
by Ju-Hyuck Han, Yong-Suk Kim, Jong Bin Lee, Hantai Kim, Jong-Yeup Kim and Yongseok Cho
Sensors 2025, 25(13), 4039; https://doi.org/10.3390/s25134039 - 28 Jun 2025
Viewed by 389
Abstract
Motivation: Benign paroxysmal positional vertigo (BPPV) is characterized by torsional nystagmus induced by changes in head position, where accurate quantitative assessment of subtle torsional eye movements is essential for precise diagnosis. Conventional videonystagmography (VNG) techniques face challenges in accurately capturing the rotational components [...] Read more.
Motivation: Benign paroxysmal positional vertigo (BPPV) is characterized by torsional nystagmus induced by changes in head position, where accurate quantitative assessment of subtle torsional eye movements is essential for precise diagnosis. Conventional videonystagmography (VNG) techniques face challenges in accurately capturing the rotational components of pupil movements, and existing automated methods typically exhibit limited performance in identifying torsional nystagmus. Methodology: The objective of this study was to develop an automated system capable of accurately and quantitatively detecting torsional nystagmus. We introduce the Torsion Transformer model, designed to directly estimate torsion angles from iris images. This model employs a self-supervised learning framework comprising two main components: a Decoder module, which learns rotational transformations from image data, and a Finder module, which subsequently estimates the torsion angle. The resulting torsion angle data, represented as time-series, are then analyzed using a 1-dimensional convolutional neural network (1D-CNN) classifier to detect the presence of nystagmus. The performance of the proposed method was evaluated using video recordings from 127 patients diagnosed with BPPV. Findings: Our Torsion Transformer model demonstrated robust performance, achieving a sensitivity of 89.99%, specificity of 86.36%, an F1-score of 88.82%, and an area under the receiver operating characteristic curve (AUROC) of 87.93%. These results indicate that the proposed model effectively quantifies torsional nystagmus, with performance levels comparable to established methods for detecting horizontal and vertical nystagmus. Thus, the Torsion Transformer shows considerable promise as a clinical decision support tool in the diagnosis of BPPV. Key Findings: Technical performance improvement in torsional nystagmus detection; System to support clinical decision-making for healthcare professionals. Full article
(This article belongs to the Section Biomedical Sensors)
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18 pages, 348 KiB  
Review
Ophthalmologic Manifestations in Bardet–Biedl Syndrome: Emerging Therapeutic Approaches
by Amaris Rosado, Ediel Rodriguez and Natalio Izquierdo
Medicina 2025, 61(7), 1135; https://doi.org/10.3390/medicina61071135 - 24 Jun 2025
Viewed by 441
Abstract
Bardet–Biedl syndrome (BBS) is a rare multisystem ciliopathy characterized by early-onset retinal degeneration and other vision-threatening ophthalmologic manifestations. This review synthesizes current knowledge on the ocular phenotype of BBS as well as emerging therapeutic approaches aimed at preserving visual function. Retinal degeneration, particularly [...] Read more.
Bardet–Biedl syndrome (BBS) is a rare multisystem ciliopathy characterized by early-onset retinal degeneration and other vision-threatening ophthalmologic manifestations. This review synthesizes current knowledge on the ocular phenotype of BBS as well as emerging therapeutic approaches aimed at preserving visual function. Retinal degeneration, particularly early macular involvement and rod–cone dystrophy, remains the hallmark of BBS-related vision loss. Additional ocular manifestations, such as refractive errors, nystagmus, optic nerve abnormalities, and cataracts further contribute to visual morbidity. Experimental therapies—including gene-based interventions and pharmacologic strategies such as nonsense suppression and antioxidant approaches—have shown promise in preclinical models but require further validation. Early ophthalmologic care, including routine visual assessments, refractive correction, and low-vision rehabilitation, remains the standard of management. However, there are currently no effective therapies to halt or reverse retinal degeneration, which underscores the importance of emerging molecular and genetic interventions. Timely recognition and comprehensive ophthalmologic evaluation are essential to mitigate visual decline in BBS. Future efforts should focus on translating these approaches into clinical practice, enhancing early diagnosis, and promoting multidisciplinary collaboration to improve long-term outcomes for patients with BBS. Full article
(This article belongs to the Special Issue Ophthalmology: New Diagnostic and Treatment Approaches)
16 pages, 3298 KiB  
Article
A Novel Pathogenic Variant Identified in HIKESHI-Related Hypomyelinating Leukodystrophy Disrupts Heat Shock Response in iPSCs
by Mahmood Ali Saleh, Maria Boichuck, Aner Ottolenghi, Tatiana Rabinski, Omri Goldenthal, Daniel Sevilla Sanchez, Aviva Fattal-Valevski, Gali Heimer, Shay Ben-Shachar, Stephanie Libzon, Orly Gershoni-Yahalom, Anat Ben-Zvi, Raz Zarivach, Ayelet Zerem, Benyamin Rosental and Gad David Vatine
Int. J. Mol. Sci. 2025, 26(13), 6037; https://doi.org/10.3390/ijms26136037 - 24 Jun 2025
Viewed by 687
Abstract
HIKESHI-related hypomyelinating leukodystrophy (HHL) is a life-threatening disorder caused by homozygous pathogenic variants in HIKESHI. Symptoms include infantile onset progressive spastic dystonic quadriplegia, nystagmus, failure to thrive, diffused hypomyelination, and severe morbidity or death following febrile illness. V54L variants in HIKESHI are [...] Read more.
HIKESHI-related hypomyelinating leukodystrophy (HHL) is a life-threatening disorder caused by homozygous pathogenic variants in HIKESHI. Symptoms include infantile onset progressive spastic dystonic quadriplegia, nystagmus, failure to thrive, diffused hypomyelination, and severe morbidity or death following febrile illness. V54L variants in HIKESHI are particularly prevalent within the Ashkenazi Jewish population. Here, we identified a novel P78S disease-causing variant in HIKESHI in a patient of Christian Arab origin, presenting with clinical and radiologic features characteristic of HHL. In silico analysis suggests that the mutated residue may affect the HIKESHI protein’s dimerization domain. We generated a comprehensive set of induced pluripotent stem cells (iPSCs) from the index case and two additional HHL patients. To investigate mechanisms potentially linked to febrile illness in HHL, we used these cells to study the heat shock (HS) response. HHL-iPSCs showed dramatically decreased levels of HIKESHI compared with healthy controls following HS. In addition, they exhibited increased HSP70 mRNA levels in response to HS, suggesting an increased sensitivity. HHL-iPSCs had impaired HSP70 translocation to the nucleus. Our results provide a human-relevant model for HHL. Full article
(This article belongs to the Section Molecular Pathology, Diagnostics, and Therapeutics)
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13 pages, 801 KiB  
Article
Clinical and Instrumental Evaluation of Vestibular Function Before and After Cochlear Implantation in Adults
by Pasqualina Maria Picciotti, Tiziana Di Cesare, Daniela Rodolico, Walter Di Nardo and Jacopo Galli
Audiol. Res. 2025, 15(3), 71; https://doi.org/10.3390/audiolres15030071 - 15 Jun 2025
Cited by 1 | Viewed by 550
Abstract
Background/Objectives: Vestibular dysfunction is one of the main complications after cochlear implant (CI) surgery, and there are currently no standardized protocols for vestibular assessment in CI candidates. Our objectives were to investigate the incidence of vestibular impairment after CI surgery, anamnestic (age, known [...] Read more.
Background/Objectives: Vestibular dysfunction is one of the main complications after cochlear implant (CI) surgery, and there are currently no standardized protocols for vestibular assessment in CI candidates. Our objectives were to investigate the incidence of vestibular impairment after CI surgery, anamnestic (age, known systemic pathologies and cause of deafness) and surgical (intraoperative complications, malposition of the CI) risk factors, and the role of vestibular assessment in the selection of the suitable ear for implantation. Methods: We included 68 adult patients (80 ears) affected by moderate-to-profound SNHL undergoing CI. The dizziness handicap inventory (DHI), the video head impulse test (VHIT), the caloric test, and dynamic posturography (DP) were used to study the vestibular function and balance before and one month after CI. The DHI was also administered 24 h after surgery. Results: Despite significative impairment 24 h after surgery (29.6 ± 30), the mean DHI score returned to preoperative values (17.9 ± 26) after one month. Dizziness persisted in case of age ≥ 65 years old, surgical difficulties, simultaneous bilateral CI, Meniere’s disease and otosclerosis, comorbidities ≥ 3, anxiety/depression, and neurological diseases. The VHIT significantly worsened in 25% of ears, while the caloric test SPV nystagmus significantly decreased in 30% of ears. In cases of preoperative unilateral weakness, the implantation of the better ear was significantly related to higher DHI scores. Only 4/68 patients had a significant persistent reduction in the postural composite score after surgery, with an increased risk of falls. Conclusions: Medical history and vestibular assessment predict the risk of vestibular damage and help to choose the CI’s side and to manage vertigo after surgery. Full article
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11 pages, 632 KiB  
Article
Expansion of the Genotypic and Phenotypic Spectrum of TCTN3-Related Joubert Syndrome
by Mariangela Lo Giudice, Eugenia Borgione, Marika Giuliano, Sandro Santa Paola, Francesco Domenico Di Blasi, Rosa Pettinato, Corrado Romano and Carmela Scuderi
Genes 2025, 16(6), 706; https://doi.org/10.3390/genes16060706 - 13 Jun 2025
Viewed by 655
Abstract
Background/Objectives: Joubert syndrome (JS, MIM 213300) is a rare genetic condition characterized by respiratory control disturbances, abnormal eye movements, ataxia, cognitive impairment, and the notable agenesis of the cerebellar vermis. The molar tooth sign visible in magnetic resonance imaging of the brain serves [...] Read more.
Background/Objectives: Joubert syndrome (JS, MIM 213300) is a rare genetic condition characterized by respiratory control disturbances, abnormal eye movements, ataxia, cognitive impairment, and the notable agenesis of the cerebellar vermis. The molar tooth sign visible in magnetic resonance imaging of the brain serves as a diagnostic tool for JS. Variants in the TCTN3 gene can lead to the development of several diseases, including JS type 18, Orofaciodigital syndrome IV, and Meckel–Gruber syndrome. Methods: We performed whole-exome sequencing (WES) in a 49-year-old woman with JS characterized by severe intellectual disability, ataxic gait, agenesis of the cerebellar vermis leading to the molar tooth sign, dystonic movements, strabismus, and nystagmus. Moreover, the patient also showed a thickened corpus callosum. Results: Molecular analysis through WES revealed the heterozygous variants c.182dup (p.G62Wfs*18) and c.1452+4del in the TCTN3 gene, expanding our understanding of the genetic diversity and potential phenotypic implications associated with TCTN3 variations. Conclusions: To our knowledge, this is the first patient with JS and a thickened corpus callosum. Moreover, a thickened corpus callosum has never been identified in patients with pathogenic variants of the TCTN3 gene. Full article
(This article belongs to the Special Issue Molecular Basis and Genetics of Intellectual Disability)
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21 pages, 4184 KiB  
Article
Binocular and Fellow Eye Acuity Deficits in Amblyopia: Impact of Fixation Instability and Sensory Factors
by Yulia Haraguchi, Gokce Busra Cakir, Aasef Shaikh and Fatema Ghasia
J. Eye Mov. Res. 2025, 18(3), 20; https://doi.org/10.3390/jemr18030020 - 3 Jun 2025
Viewed by 607
Abstract
Amblyopia, a neurodevelopmental disorder, is commonly assessed through amblyopic eye visual acuity (VA) deficits, but recent studies also highlight abnormalities in the fellow eye. This study quantified binocular and fellow/dominant eye VA in individuals with amblyopia and strabismus without amblyopia and examined factors [...] Read more.
Amblyopia, a neurodevelopmental disorder, is commonly assessed through amblyopic eye visual acuity (VA) deficits, but recent studies also highlight abnormalities in the fellow eye. This study quantified binocular and fellow/dominant eye VA in individuals with amblyopia and strabismus without amblyopia and examined factors influencing these measures, including fixation eye movement (FEM) abnormalities. Identifying which subsets of patients—such as those with nystagmus, concurrent strabismus, or greater fixation instability—exhibit more pronounced deficits in binocular visual acuity and binocular summation can enhance clinical decision-making by enabling tailored interventions and aiding patient counseling. Sixty-eight amblyopic, seventeen strabismic without amblyopia, and twenty-four control subjects were assessed using an adaptive psychophysical staircase procedure and high-resolution video-oculography to evaluate FEMs and fixation instability (FI). Binocular and fellow eye VA were significantly lower in amblyopia, regardless of type or nystagmus presence, whereas binocular and dominant eye VA in strabismus without amblyopia did not differ from the controls. Despite reduced binocular acuity, amblyopic and strabismic subjects exhibited binocular summation, with binocular VA exceeding fellow/dominant eye VA. Reduced binocular VA correlated with greater fellow eye VA deficits, diminished binocular summation, and increased FI in the amblyopic eye. Fellow eye VA deficits were linked to greater amblyopic eye VA deficits, an increased degree of anisometropia, higher FI, and stronger nystagmus correlation. These findings suggest amblyopia affects both visual sensory and motor systems, impacting binocular function and fixation stability, with potential consequences for everyday visuomotor tasks like reading. Full article
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16 pages, 4355 KiB  
Review
Swept-Source Optical Coherence Tomography in the Diagnosis and Monitoring of Optic Nerve Neuropathy in Patients with Wernicke’s Encephalopathy Due to Hyperemesis Gravidarum
by Magdalena Kal, Michał Brzdęk, Justyna Tracz, Paweł Szadkowski and Dorota Zarębska-Michaluk
J. Clin. Med. 2025, 14(11), 3849; https://doi.org/10.3390/jcm14113849 - 30 May 2025
Viewed by 581
Abstract
Objectives: This review explores the role of swept-source optical coherence tomography (OCT) in diagnosing and monitoring optic nerve neuropathy in Wernicke’s encephalopathy (WE) due to hyperemesis gravidarum, including a case of neuropathy from intractable vomiting in pregnancy. Methods: A literature search [...] Read more.
Objectives: This review explores the role of swept-source optical coherence tomography (OCT) in diagnosing and monitoring optic nerve neuropathy in Wernicke’s encephalopathy (WE) due to hyperemesis gravidarum, including a case of neuropathy from intractable vomiting in pregnancy. Methods: A literature search was conducted in the PubMed database to select high-quality reviews and original articles on the use of swept-source OCT for assessing optic nerve involvement in WE due to hyperemesis gravidarum. Results: WE is a potentially fatal neuropsychiatric syndrome caused by thiamine deficiency due to various causes, like alcoholism, malnutrition, and prolonged parenteral nutrition. This condition can cause neurological disorders such as imbalance, altered mental status, nystagmus, and ophthalmoplegia. Sometimes, there is also a deterioration of visual acuity with swelling of the optic disc. OCT is a non-invasive imaging tool that can detect optic nerve involvement in WE by assessing peripapillary retinal nerve fiber layer (pRNFL) thickness. In the acute phase, optic disc edema and increased pRNFL thickness may be observed, while chronic-phase changes include optic nerve atrophy and pRNFL thinning. WE may occur in the course of hyperemesis gravidarum in pregnant women. We present a case of a 23-year-old woman at 14 weeks of gestation with WE due to severe hyperemesis gravidarum, manifesting as visual impairment and neurological deficits. MRI confirmed the diagnosis, while OCT revealed transient pRNFL thickening followed by optic nerve atrophy. Conclusions: Early diagnosis and thiamine supplementation are crucial to preventing severe complications. OCT is a valuable tool for detecting and tracking optic nerve changes in WE. Full article
(This article belongs to the Section Nuclear Medicine & Radiology)
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19 pages, 4536 KiB  
Review
Review of Four Refined Clinical Entities in Hereditary Retinal Disorders from Japan
by Yozo Miyake
Int. J. Mol. Sci. 2025, 26(11), 5166; https://doi.org/10.3390/ijms26115166 - 28 May 2025
Viewed by 509
Abstract
In the past, only Oguchi disease was reported as a hereditary retinal disease from Japan. Dr. Chuuta Oguch was a Professor of Nagoya University in Japan. During the past 40 years, four new clinical entities in hereditary retinal disorders have been detected by [...] Read more.
In the past, only Oguchi disease was reported as a hereditary retinal disease from Japan. Dr. Chuuta Oguch was a Professor of Nagoya University in Japan. During the past 40 years, four new clinical entities in hereditary retinal disorders have been detected by the Miyake group from Nagoya, Japan. All disorders show essentially normal fundi, and the diagnosis was made mainly by the analysis of an electroretinogram (ERG). Gene mutations are detected in three of them. Bipolar cell (BP) dysfunction syndrome: Congenital stationary night blindness (CSNB) with negative ERG (a-wave is larger than b-wave) was named as the Schubert–Bornschein type in 1952 and considered to be an independent clinical entity. In 1986, Miyake group classified ninety patients with the Schubert–Bornschein type into two types (complete and incomplete type). The complete type of CSNB (CSNB1) showed no rod function, but the incomplete type CSNB (CSNB2) showed remaining rod function in both subjective dark adaptation and rod ERG. In order to investigate the pathogenesis, these two types of CSNB were analyzed by comparing the monkey ERGs using different glutamate analogs to the retina. The ERG analysis demonstrated that CSNB1 has a complete functional defect in the ON type BP, while CSNB2 has incomplete functional defects in the ON and OFF type BP in both rod and cone visual pathways. Evidence of several different genetic heterogeneities was reported in both diseases, indicating CSNB1 and CSNB2 are independent clinical entities. Another entity, showing total complete defect of both ON and OFF BP, was detected in 1974 and was reported by Miyake group in a brother and younger sister, showing severe photophobia, nystagmus, extremely low visual acuity, and disappearance of color vision (total color blindness). This disorder is a congenital stational condition, and subjective visual functions were severely deteriorated from birth but remained unchanged through life. This disease was termed “Total complete bipolar cell dysfunction syndrome (CSNB3)”. The relationship between BP and subjective visual function was unknown. These three kinds of BP diseases can provide information on how BP relates to subjective visual functions. Occult macular dystrophy (OMD): Occult macular dystrophy (OMD) was discovered by Miyake group in 1989. This disease shows an unusual, inherited macular dystrophy characterized by progressive decrease visual acuity due to macular dysfunction, but the fundus and fluorescein angiography are essentially normal. The full-field rod and cone ERG do not show any abnormality, but the focal macular ERG (FERG) or multifocal ERG is abnormal and the only method for diagnosis. Many pedigrees of this disorder suggest autosomal dominant heredity, showing a genetic mutation of RP1L1. This disease was termed “occult macular dystrophy”. “Occult” means “hidden from sight”. Recently, it has been called “Miyake disease”. Full article
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16 pages, 1919 KiB  
Article
Retinal Changes in Early-Onset cblC Methylmalonic Acidemia Identified Through Expanded Newborn Screening: Highlights from a Case Study and Literature Review
by Paola Michieletto, Francesco Baldo, Maurizio Madonia, Luisa Zupin, Stefano Pensiero and Maria Teresa Bonati
Genes 2025, 16(6), 635; https://doi.org/10.3390/genes16060635 - 25 May 2025
Viewed by 756
Abstract
Background: Methylmalonic acidemia combined with homocystinuria (cblC) can lead to infantile maculopathy. Although significant visual deterioration is commonly reported in early-onset cblC, we found poor awareness regarding formal assessments of ocular complications, especially in newborns, and of how these complications relate to the [...] Read more.
Background: Methylmalonic acidemia combined with homocystinuria (cblC) can lead to infantile maculopathy. Although significant visual deterioration is commonly reported in early-onset cblC, we found poor awareness regarding formal assessments of ocular complications, especially in newborns, and of how these complications relate to the timing of therapy initiation. In this work, we present our experience and perform a literature review. Methods: We performed sequential fundus examinations, optical coherence tomography (OCT) and full-field electroretinography (ERG) under sedation following detection of signs of retinal degeneration. We also assessed visual fields using kinetic attraction perimetry. Results: We report a newborn who was referred on the eighth day of life, following a diagnosis of cblC through newborn screening (NBS), and who began treatment that same day. Close monitoring of retinal changes through fundus examinations allowed the detection of signs of retinal degeneration at 3 months, which progressed when checked at 5 months. At 7 months, OCT showed retinal thinning with the appearance of bull’s eye maculopathy in the corresponding region on fundoscopy; ERG revealed a reduction in the amplitude of both scotopic and photopic components, whereas kinetic attraction perimetry showed no abnormalities. Genetic investigation confirmed the disease, compound heterozygous for a nonsense variant in MMACHC and a splicing one in PRDX1. Conclusions: In cblC, retinal degeneration occurs in the first months of life despite timely treatment and adequate biochemical control, and it may manifest before any signs of visual deprivation appear. However, there is an early, narrow window during which therapy may slow down retinal degeneration enough to prevent sensory nystagmus. We recommend initiating therapy immediately after biochemical diagnosis, along with close ophthalmological monitoring, before the appearance of any signs. Full article
(This article belongs to the Section Molecular Genetics and Genomics)
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17 pages, 1263 KiB  
Article
Is CT Still the Gold Standard in Semicircular Canal Dehiscence? Diagnostic Value of MRI in Poschl and Stenver Planes
by Cagatay Bolgen and Birsen Unal Daphan
Brain Sci. 2025, 15(6), 555; https://doi.org/10.3390/brainsci15060555 - 23 May 2025
Viewed by 730
Abstract
Background/Objectives: The primary aim of this study was to investigate whether magnetic resonance imaging (MRI) of the superior and posterior semicircular canals (SCs) in cases with and without dehiscence gives results similar to those of CT. As a novel contribution, the secondary aim [...] Read more.
Background/Objectives: The primary aim of this study was to investigate whether magnetic resonance imaging (MRI) of the superior and posterior semicircular canals (SCs) in cases with and without dehiscence gives results similar to those of CT. As a novel contribution, the secondary aim was to assess the diagnostic correlation between CT and MRI sequences obtained primarily in Poschl and Stenver planes, instead of reformatted images, for detecting superior and posterior semicircular canal dehiscence. Methods: A total of 103 patients were retrospectively evaluated based on CT scans, and 27 of them, with the appearance or suspicion of at least one SCD and/or thinner-than-normal canal roof bone, were prospectively examined with MRI. Results: With CT as a reference, MRI had a 78% detection rate and 92% specificity for the detection of dehiscence in the superior SCs. For posterior SCs, the dehiscence detection rate and specificity of MRI were 70% and 97%, respectively. CT and MRI examinations showed a significant agreement in the diagnosis of SCD (κ = 0.71, p < 0.001 for superior SCD; κ = 0.73, p < 0.001 for posterior SCD). The agreement values of MRIs obtained in Poschl and Stenver planes with CT in the detection of dehiscence were calculated as κ = 0.43 in Poschl and κ = 0.51 in Stenver for superior SCD; κ = 0.45 in Poschl and κ = 0.46 in Stenver for posterior SCD. Conclusions: The MRI results demonstrated similar diagnostic precision to CT when identifying SCD. In patients presenting with vertigo, nystagmus, and hearing loss, normal MRI findings may be sufficient to exclude semicircular canal dehiscence (SCD), thereby potentially obviating the need for additional CT imaging. The newly introduced Poschl and Stenver plane MRI sequences demonstrate a moderate relationship with CT for SCD diagnosis. Full article
(This article belongs to the Section Neurotechnology and Neuroimaging)
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20 pages, 6529 KiB  
Review
Vestibular Atelectasis: A Narrative Review and Our Experience
by Andrea Tozzi, Andrea Castellucci, Salvatore Martellucci, Pasquale Malara, Michael Eliezer, Giuseppe Ferrulli, Rosanna Rita Ruberto, Pasquale Brizzi, Enrico Armato, Alessio Marchetti, Daniele Marchioni, Angelo Ghidini and Claudio Moratti
Audiol. Res. 2025, 15(3), 61; https://doi.org/10.3390/audiolres15030061 - 18 May 2025
Viewed by 857
Abstract
Vestibular atelectasis (VA) is a rare clinical entity characterized by a collapse of the endolymphatic space resulting in vestibular loss with the possible onset of positional and/or sound/pressure-induced vertigo. It could be idiopathic or secondary to other inner-ear diseases including Meniere’s disease (MD). [...] Read more.
Vestibular atelectasis (VA) is a rare clinical entity characterized by a collapse of the endolymphatic space resulting in vestibular loss with the possible onset of positional and/or sound/pressure-induced vertigo. It could be idiopathic or secondary to other inner-ear diseases including Meniere’s disease (MD). A collapse of the membranous labyrinth involving the semicircular canals (SCs) and the utricle represents its distinctive histopathological feature. While specific radiological patterns consistent with VA have been described on contrast-enhanced MRI with delayed acquisitions, an impairment of the blood–labyrinthine barrier (BLB) could be detected in several disorders leading to vestibular loss. We conducted a narrative review of the literature on VA focusing on the putative pathomechanisms accounting for positional and sound/pressure-induced nystagmus despite unilateral vestibular loss (UVL) in this condition, providing two novel cases of VA. Both patients presented with a clinical picture consistent with unilateral MD that rapidly turned into progressive UVL and positional and/or sound/pressure-induced vertigo. In both cases, the posterior SC was initially impaired at the video-head impulse test (vHIT) and both cervical and ocular VEMPs were initially reduced. Progressively, they developed unsteadiness with paretic spontaneous nystagmus, an impairment also for the lateral and anterior SCs, caloric hypo/areflexia and VEMPs areflexia. They both exhibited ipsilesional nystagmus to sound/pressure stimuli and in one case a persistent geotropic direction-changing positional nystagmus consistent with a “light cupula” mechanism involving the lateral SC of the affected side. A collapse of the membranous labyrinthine walls resulting in contact between the vestibular sensors and the stapes footplate could explain the onset of nystagmus to loud sounds and/or pressure changes despite no responses to high- and low-frequency inputs as detected by caloric irrigations, vHIT and VEMPs. On the other hand, the onset of positional nystagmus despite UVL could be explained with the theory of the “floating labyrinth”. Both patients received contrast-enhanced brain MRI with delayed acquisition exhibiting increased contrast uptake in the pars superior of the labyrinth, suggesting an impairment of the BLB likely resulting in secondary VA. A small intralabyrinthine schwannoma was detected in one case. VA should always be considered in case of positional and/or sound/pressure-induced vertigo despite UVL. Full article
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Review
A Review of the Ocular Phenotype and Correlation with Genotype in Poretti–Boltshauser Syndrome
by Won Young Moon, Sanil Shah, Nervine ElMeshad and Samantha R. De Silva
Medicina 2025, 61(5), 881; https://doi.org/10.3390/medicina61050881 - 12 May 2025
Viewed by 539
Abstract
Background and Objectives: Poretti–Boltshauser syndrome (PBS) is a rare, autosomal recessive disorder caused by pathogenic variants in the LAMA1 gene, resulting in laminin dysfunction. This manifests as a cerebellar malformation with cysts, and patients present with developmental delay and ataxia; however, ocular [...] Read more.
Background and Objectives: Poretti–Boltshauser syndrome (PBS) is a rare, autosomal recessive disorder caused by pathogenic variants in the LAMA1 gene, resulting in laminin dysfunction. This manifests as a cerebellar malformation with cysts, and patients present with developmental delay and ataxia; however, ocular features are not well-characterised. We aimed to summarise the ocular phenotypes of PBS based on cases reported in the literature. Materials and Methods: A literature search was conducted on Medline, Embase, and PubMed on PBS and its ocular associations. Genetically confirmed PBS cases were reviewed, and genotype–phenotype correlations were investigated. Results: Comprehensive reporting of genotypes and associated systemic and ocular phenotypes was available in 51 patients with PBS, who had 52 distinct variants in LAMA1. Most patients carried homozygous variants. The most common genotype was a c.2935delA homozygous mutation, followed by the c.768+1G>A; c.6701delC compound heterozygous mutation. High myopia was the most common ocular phenotype (n = 39), followed by strabismus (n = 27) and ocular motor apraxia (n = 26). A wide range of other ocular manifestations, including retinal dystrophy, retinal neovascularisation, retinal detachment, strabismus, nystagmus, optic disc and iris hypoplasia, were reported. Patients with the same genotype exhibited variable expressivity. Conclusions: PBS has a broad ocular phenotypic spectrum, and characterisation of this variability is important for making an accurate diagnosis and informing genetic counselling. Full article
(This article belongs to the Section Ophthalmology)
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