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Frontiers in Neurology 2024Highly myopic optic nerve head (ONH) abnormalities encompass a series of complications resulting from the stretching of papillary and peripapillary structures during... (Review)
Review
Highly myopic optic nerve head (ONH) abnormalities encompass a series of complications resulting from the stretching of papillary and peripapillary structures during significant axial elongation. The morphological changes in the ONH typically initiate with disk tilting or rotation, progressing to PHOMS and PPA. Tissue defects in each layer manifest as focal lamina cribrosa defects (FLDs), peripapillary intrachoroidal cavitations (PICCs), and acquired pits of the optic nerve (APON). Anterior vitreous/vascular traction and posterior scleral protrusion may lead to prelaminar schisis as well as paravascular cysts and holes, which can potentially develop into retinoschisis. Traditional color fundus photography (CFP) is often insufficient for visualizing most of these lesions, yet their description and quantification benefit significantly from the advancements in optical coherence tomography (OCT) and OCT angiography (OCTA), complemented by fundus autofluorescence (FAF), indocyanine green angiography (ICGA), and three-dimensional imaging. The effective diagnosis and classification of ONH abnormalities heavily rely on a comprehensive understanding of their multimodal imaging features, as outlined in this review. These findings provide valuable insights into optic neuropathy in high myopia, establishing a solid foundation for future endeavors in disease monitoring and treatment guidance.
PubMed: 38715686
DOI: 10.3389/fneur.2024.1366593 -
Ophthalmic & Physiological Optics : the... Jul 2024The aim of this study was to investigate the microcirculatory characteristics of the dome-shaped macula (DSM), its complications in highly myopic eyes and to explore the...
Evaluating the microcirculation of the dome-shaped macula and its complications in adults with highly myopic eyes by swept-source optical coherence tomography angiography.
PURPOSE
The aim of this study was to investigate the microcirculatory characteristics of the dome-shaped macula (DSM), its complications in highly myopic eyes and to explore the factors associated with a DSM.
METHODS
This cross-sectional case-control study included a total of 98 subjects (98 eyes): 49 eyes with DSM and 49 eyes without DSM. The axial length (AL) of the myopic eyes was matched 1:1 to eliminate the effect of AL differences on the results. Choroidal (CT) and scleral thickness (ST) and other structural parameters were assessed by swept-source optical coherence tomography (SS-OCT). OCT angiography was used to measure microcirculatory parameters in highly myopic eyes.
RESULTS
Subjects with DSM had thinner subfoveal choroidal thickness (46.01 ± 13.25 vs. 81.62 ± 48.26 μm; p < 0.001), thicker subfoveal scleral thickness (SFST; 331.93 ± 79.87 vs. 238.74 ± 70.96 μm; p < 0.001) and thinner foveal CT (66.86 ± 24.65 vs. 107.85 ± 52.65 μm; p < 0.001) compared to subjects without DSM. The foveal choroidal perfusion area (0.72 ± 0.04 vs. 0.76 ± 0.04 mm; p < 0.001) and foveal choroidal vascularity index (0.15 ± 0.04 vs. 0.33 ± 0.14; p < 0.001) were significantly lower in eyes with DSM. Retinoschisis (81.6% vs. 38.8%; p < 0.001) was more common in eyes with DSM. Eyes with horizontal DSM had worse best-corrected logMAR visual acuity than eyes with round DSM (0.34 ± 0.22 vs. 0.23 ± 0.22; p = 0.03). DSM height (98.95 ± 65.17 vs. 104.63 ± 44.62 μm; p = 0.05) was lower in the horizontal DSM. SFST (OR = 1.06, p = 0.04) and foveal choroidal vascularity index (OR = 0.711, p = 0.02) were significantly associated with DSM. DSM width (p < 0.001), foveal choroidal perfusion area (p = 0.01), foveal choriocapillaris perfusion area (p = 0.02) and parafoveal choroidal vascularity index (p = 0.03) were the most significantly associated factors with DSM height.
CONCLUSIONS
The microcirculatory characteristics of eyes with DSM differed from those without DSM. Microcirculatory abnormalities were significantly associated with a DSM. The height of the DSM was associated with decreased blood perfusion.
Topics: Humans; Tomography, Optical Coherence; Male; Female; Cross-Sectional Studies; Macula Lutea; Microcirculation; Case-Control Studies; Middle Aged; Adult; Fluorescein Angiography; Visual Acuity; Retinal Vessels; Myopia, Degenerative; Choroid; Fundus Oculi
PubMed: 38685756
DOI: 10.1111/opo.13314 -
Medicina 2024
Topics: Humans; Male; Retinoschisis; Tomography, Optical Coherence; Adult
PubMed: 38683539
DOI: No ID Found -
Human Gene Therapy May 2024X-linked retinoschisis (XLRS) is a monogenic recessive inherited retinal disease caused by defects in retinoschisin (RS1). It manifests clinically as retinal schisis...
X-linked retinoschisis (XLRS) is a monogenic recessive inherited retinal disease caused by defects in retinoschisin (RS1). It manifests clinically as retinal schisis cavities and a disproportionate reduction of b-wave amplitude compared with the a-wave amplitude. Currently there is no approved treatment. In the last decade, there has been major progress in the development of gene therapy for XLRS. Previous preclinical studies have demonstrated the treatment benefits of gene augmentation therapy in mouse models. However, outcomes in clinical trials have been disappointing, and this might be attributed to dysfunctional assembly of RS1 complexes and/or the impaired targeted cells. In this study, the human synapsin 1 gene promoter (hSyn) was used to control the expression of hRS1 to specifically target retinal ganglion cells and our results confirmed the specific expression and functional assembly of the protein. Moreover, our results demonstrated that a single intravitreal injection of rAAV2-hSyn-hRS1 results in architectural restoration of retinal schisis cavities and improvement in vision in a mouse model of XLRS. In brief, this study not only supports the clinical development of the rAAV2-hSyn-hRS1 vector in XLRS patients but also confirms the therapeutic potential of rAAV-based gene therapy in inherited retinal diseases.
Topics: Animals; Dependovirus; Retinal Ganglion Cells; Mice; Genetic Therapy; Retinoschisis; Humans; Genetic Vectors; Disease Models, Animal; Intravitreal Injections; Synapsins; Mice, Knockout; Eye Proteins; Gene Expression; Promoter Regions, Genetic; Retina; Gene Transfer Techniques
PubMed: 38661546
DOI: 10.1089/hum.2023.209 -
Scientific Reports Apr 2024This study aimed to automatically detect epiretinal membranes (ERM) in various OCT-scans of the central and paracentral macula region and classify them by size using...
This study aimed to automatically detect epiretinal membranes (ERM) in various OCT-scans of the central and paracentral macula region and classify them by size using deep-neural-networks (DNNs). To this end, 11,061 OCT-images were included and graded according to the presence of an ERM and its size (small 100-1000 µm, large > 1000 µm). The data set was divided into training, validation and test sets (75%, 10%, 15% of the data, respectively). An ensemble of DNNs was trained and saliency maps were generated using Guided-Backprob. OCT-scans were also transformed into a one-dimensional-value using t-SNE analysis. The DNNs' receiver-operating-characteristics on the test set showed a high performance for no-ERM, small-ERM and large-ERM cases (AUC: 0.99, 0.92, 0.99, respectively; 3-way accuracy: 89%), with small-ERMs being the most difficult ones to detect. t-SNE analysis sorted cases by size and, in particular, revealed increased classification uncertainty at the transitions between groups. Saliency maps reliably highlighted ERM, regardless of the presence of other OCT features (i.e. retinal-thickening, intraretinal pseudo-cysts, epiretinal-proliferation) and entities such as ERM-retinoschisis, macular-pseudohole and lamellar-macular-hole. This study showed therefore that DNNs can reliably detect and grade ERMs according to their size not only in the fovea but also in the paracentral region. This is also achieved in cases of hard-to-detect, small-ERMs. In addition, the generated saliency maps can be used to highlight small-ERMs that might otherwise be missed. The proposed model could be used for screening-programs or decision-support-systems in the future.
Topics: Humans; Epiretinal Membrane; Tomography, Optical Coherence; Retrospective Studies; Visual Acuity; Neural Networks, Computer
PubMed: 38605115
DOI: 10.1038/s41598-024-57798-1 -
Japanese Journal of Ophthalmology May 2024The aim of this study was to estimate the number of patients in Japan who had visited an ophthalmologist for macular dystrophy of various types, including Best...
PURPOSE
The aim of this study was to estimate the number of patients in Japan who had visited an ophthalmologist for macular dystrophy of various types, including Best vitelliform macular dystrophy (BVMD), Stargardt disease, occult macular dystrophy (OMD), cone (-rod) dystrophy, X-linked retinoschisis (XLRS), and central areolar choroid dystrophy (CACD).
STUDY DESIGN
Nationwide epidemiologic survey METHODS: Questionnaires were distributed to 965 major facilities, including all the university hospitals in Japan. The aim of the questionnaire was to determine the number of patients with each type of macular dystrophy who had visited an outpatient clinic during the past 5 years (January 2015 to December 2019).
RESULTS
Over 70% of the patients were diagnosed and followed up at university hospitals. The estimated annual number of newly diagnosed cases was as follows: 55.3 for BVMD, 36.7 for Stargardt disease, 35.8 for OMD, 160.6 for cone (-rod) dystrophy, 31.0 for XLRS, 29.8 for CACD, and 174.1 for other types of macular dystrophy. The total number of patients with macular dystrophy diagnosed and followed at major institutions was estimated to be 6651.
CONCLUSION
This was the first nationwide survey of macular dystrophy in Japan and provided an approximate number of affected patients. The diagnosis of macular dystrophy is primarily carried out at facilities with affiliated specialists, such as university hospitals. By examining the incidence of multiple diseases simultaneously, we were able to compare the incidence of each type of macular dystrophy.
Topics: Humans; Japan; Incidence; Male; Female; Macular Degeneration; Middle Aged; Adult; Surveys and Questionnaires; Adolescent; Child; Retrospective Studies; Aged; Visual Acuity; Follow-Up Studies; Young Adult
PubMed: 38568448
DOI: 10.1007/s10384-024-01060-8 -
Medicine Mar 2024Retinal cysts are rare lesions of the fundus that are essentially fluid-filled cavities located or originating in the retina, with a diameter larger than the normal...
INTRODUCTION
Retinal cysts are rare lesions of the fundus that are essentially fluid-filled cavities located or originating in the retina, with a diameter larger than the normal retinal thickness. To date, there have been few case reports of giant retinal cyst hemorrhage with retinoschisis.
CASE PRESENTATION
A 32-year-old woman with no other medical history complained of decreased vision for 3 days after a severe cough. The best-corrected visual acuity in the right eye was 0.5. A comprehensive ophthalmological examination including slit-lamp fundoscopy, ultrasound scan of the eye, optical coherence tomography scan, and orbital magnetic resonance imaging was performed. Ophthalmological examination revealed grade III anterior chamber blood cells and grade III vitreous hemorrhage in the right eye and a large herpetic cyst on the nasal side of the retina. The cyst projected into the vitreous, with a large amount of hemorrhage vaguely visible within it. The cyst was clearly visible, and a superficial retinal limiting detachment was observed around it. Ultrasound showed a retinal cyst with retinal detachment in the right eye. Laboratory test results were unremarkable. After 3 months of conservative treatment, the patient's intracystic hemorrhage was significantly absorbed, but the size of the cyst cavity did not show any significant change. Scleral buckling with external compression combined with external drainage of the intracystic fluid was performed, the patient's visual acuity was gradually restored to a normal 1.0 after the operation, and the retina appeared flattened. The patient was finally diagnosed with a giant retinal cyst with retinoschisis in the right eye. The presumed cause was heavy coughing leading to rupture and hemorrhage of the retinal cyst, similar to the mechanism of rupture of an arterial dissection. To the best of our knowledge, this case of retinal cyst rupture and hemorrhage caused by heavy coughing with good recovery after external surgical treatment has never been reported before.
CONCLUSIONS
Giant cystic retinal hemorrhage with retinoschisis is very rare. Orbital magnetic resonance imaging and ocular B-scan ultrasound are essential for its diagnosis, and the selection of an appropriate surgical procedure is necessary to maximize the benefit for affected patients.
Topics: Female; Humans; Adult; Scleral Buckling; Retinoschisis; Retinal Detachment; Vitreous Hemorrhage; Retinal Hemorrhage; Cysts
PubMed: 38552087
DOI: 10.1097/MD.0000000000037620 -
Acta Ophthalmologica Mar 2024To utilize ultra-widefield multimodal imaging (Optos PLC) to describe novel findings in degenerative retinoschisis.
BACKGROUND/OBJECTIVE
To utilize ultra-widefield multimodal imaging (Optos PLC) to describe novel findings in degenerative retinoschisis.
METHODS
This retrospective, non-comparative case series of degenerative retinoschisis received a waiver of consent from Advarra IRB, Protocol 00066379. Initial ultra-widefield pseudocolour, colour-separated, autofluorescence, and peripheral OCT imaging were analysed for characterizing features.
RESULTS
In total, 139 eyes were included. A hyporeflective reticular pattern associated with retinoschisis was seen on pseudocolour images in 39% of cases, but visible in 53% on green-separated images. Fine hyper-reflective foci were observed in 49%. In 27%, retinoschisis was confirmed with OCT.
CONCLUSIONS
Ultra-widefield pseudocolour and green-separated images are valuable for the diagnosis and characterization of degenerative retinoschisis. The findings described may prompt the evaluation of subtle retinoschisis with peripheral OCT.
PubMed: 38533620
DOI: 10.1111/aos.16683 -
Experimental Eye Research May 2024X-linked retinoschisis (XLRS) is an early onset degenerative retinal disease characterized by cystic lesions in the middle layers of the retina. These structural changes...
X-linked retinoschisis (XLRS) is an early onset degenerative retinal disease characterized by cystic lesions in the middle layers of the retina. These structural changes are accompanied by a loss of visual acuity and decreased contrast sensitivity. XLRS is caused by mutations in the gene Rs1 which encodes the secreted protein Retinoschisin 1. Young Rs1-mutant mouse models develop key hallmarks of XLRS including intraretinal schisis and abnormal electroretinograms. The electroretinogram (ERG) comprises activity of multiple cellular generators, and it is not known how and when each of these is impacted in Rs1 mutant mice. Here we use an ex vivo ERG system and pharmacological blockade to determine how ERG components generated by photoreceptors, ON-bipolar, and Müller glial cells are impacted in Rs1 mutants and to determine the time course of these changes. We report that ERG abnormalities begin near eye-opening and that all ERG components are involved.
Topics: Animals; Retinoschisis; Electroretinography; Mice; Disease Models, Animal; Eye Proteins; Photoreceptor Cells, Vertebrate; Mice, Inbred C57BL; Mutation; Ependymoglial Cells; Male; Retinal Bipolar Cells; Cell Adhesion Molecules
PubMed: 38514024
DOI: 10.1016/j.exer.2024.109872 -
International Journal of Molecular... Mar 2024Aland island eye disease (AIED), an incomplete form of X-linked congenital stationary night blindness (CSNB2A), and X-linked cone-rod dystrophy type 3 (CORDX3) display...
Aland island eye disease (AIED), an incomplete form of X-linked congenital stationary night blindness (CSNB2A), and X-linked cone-rod dystrophy type 3 (CORDX3) display many overlapping clinical findings. They result from mutations in the gene encoding the α subunit of the Cav1.4 channel, which plays a key role in neurotransmission from rod and cone photoreceptors to bipolar cells. Case report: A 57-year-old Caucasian man who had suffered since his early childhood from nystagmus, nyctalopia, low visual acuity and high myopia in both eyes (OU) presented to expand the diagnostic process, because similar symptoms had occurred in his 2-month-old grandson. Additionally, the patient was diagnosed with protanomalous color vision deficiency, diffuse thinning, and moderate hypopigmentation of the retina. Optical coherence tomography of the macula revealed retinoschisis in the right eye and foveal hypoplasia in the left eye. Dark-adapted (DA) 3.0 flash full-field electroretinography (ffERG) amplitudes of a-waves were attenuated, and the amplitudes of b-waves were abolished, which resulted in a negative pattern of the ERG. Moreover, the light-adapted 3.0 and 3.0 flicker ffERG as well as the DA 0.01 ffERG were consistent with severely reduced responses OU. Genetic testing revealed a hemizygous form of a stop-gained mutation (c.4051C>T) in exon 35 of the gene. This pathogenic variant has so far been described in combination with a phenotype corresponding to CSNB2A and CORDX3. This report contributes to expanding the knowledge of the clinical spectrum of -related disease. Wide variability and the overlapping clinical manifestations observed within AIED and its allelic disorders may not be explained solely by the consequences of different mutations on proteins. The lack of distinct genotype-phenotype correlations indicates the presence of additional, not yet identified, disease-modifying factors.
Topics: Male; Humans; Child, Preschool; Infant; Middle Aged; Retinoschisis; Calcium Channels, L-Type; Genetic Diseases, X-Linked; Retinal Diseases; Retina; Mutation; Night Blindness; Myopia; Albinism, Ocular; Retinitis Pigmentosa; Eye Diseases, Hereditary
PubMed: 38474172
DOI: 10.3390/ijms25052928