Areas Of Atrophy Research Articles

CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural History

To analyze the clinical characteristics, natural history, and genetics of CERKL-associated retinal dystrophy in the largest series to date. Multicenter retrospective cohort study. Forty-seven patients (37 families) with likely disease-causing CERKL variants. Review of clinical notes, ophthalmic images, and molecular diagnosis from 2 international centers. Visual function, retinal imaging, and characteristics were evaluated and correlated. The mean age at the first visit was 29.6± 13.9 years, and the mean follow-up time was 9.1± 7.4 years. The most frequent initial symptom was central vision loss (40%), and the most common retinal feature was well-demarcated areas of macular atrophy (57%). Seventy-seven percent of the participants had double-null genotypes, and 64% had electrophysiological assessment. Among the latter, 53% showed similar severity of rod and cone dysfunction, 27% revealed a rod-cone, 10% a cone-rod, and 10% a macular dystrophy dysfunction pattern. Patients without double-null genotypes tended to have fewer pigment deposits and included a higher proportion of older patients with a relatively mild electrophysiological phenotype. Longitudinal analysis showed that over half of the cohort lost 15 ETDRS letters or more in ≥ 1 eye during the first 5 years of follow-up. The phenotype of CERKL-retinal dystrophy is broad, encompassing isolated macular disease to severe retina-wide involvement, with a range of functional phenotypes, generally not fitting in the rod-cone/cone-rod dichotomy. Disease onset is often earlier, with more severe retinal degenerative changes and photoreceptor dysfunction, in nullizygous cases. Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

Progression of Pentosan Polysulfate Sodium Maculopathy in a Prospective Cohort

To describe the progression of pentosan polysulfate sodium (PPS) maculopathy after drug discontinuation qualitatively and quantitatively using multimodal imaging assessmen. Prospective case series. Patients with PPS maculopathy were evaluated after discontinuation of PPS. Near-infrared reflectance (NIR), fundus autofluorescence (FAF), and optical coherence tomography (OCT) were evaluated in all patients at baseline and at the final follow-up visit at least 12 months later. A qualitative and quantitative analysis of the retinal imaging findings was performed. Patterns of disease progression were evaluated. Area of disease involvement on FAF, retinal pigment epithelium (RPE) atrophy on FAF and NIR, and retinal layer thicknesses on OCT were measured at baseline and at the follow-up visit. A total of 26 eyes were included, with a follow-up period ranging from 13 to 30 months. The diseased area measured on FAF showed significant expansion in all eyes from baseline to follow-up despite drug cessation (P=.03) with a median linearized rate of change of 0.42 mm/y. There was significant reduction in the central macular thickness (P=.04), inner nuclear layer thickness (P=.003), outer nuclear layer thickness (P=.02), and subfoveal choroidal thickness (P=.003) at follow-up vs baseline. New areas of RPE atrophy on FAF in the macula developed in 4 eyes while preexisting atrophic lesions increased in size in 5 eyes. Eyes with baseline PPS maculopathy all exhibited remarkable progression with qualitative and quantitative multimodal imaging analysis despite drug discontinuation. Disease progression may be attributed to underlying inner choroidal ischemia or RPE impairment.

LICHEN PLANUS SCLEROSUS: CASE REPORT

Lichen planus sclerosus is a rare chronic inflammatory disease with mucocutaneous manifestation and indeterminate etiology, more common in postmenopausal women. It usually affects the anogenital region in conjunction with oral lesions. Isolated oral lesions are rare. A 57-year-old female patient was referred to a dental care center due to painful lesions located in the palate, gingiva, and oral mucosa, evolving for 6 months. Clinical examination showed: whitish, circumscribed, non-scrapable, firm lesions, in various sizes, scattered around the mucosa. Incisional biopsy revealed a saw-tooth pattern on the epithelium, showing areas of atrophy and others with a thick paraceratin layer. The connective tissue displayed diffuse chronic inflammatory infiltrate, close to the epithelium-connective junction. A sclerotic appearance, with an expressive collagen presence, was observed. The patient was thus diagnosed with lichen planus sclerosus and was referred to the dermatology service, where she has been undergoing treatment for 5 months, showing signs of improvement. Lichen planus sclerosus is a rare chronic inflammatory disease with mucocutaneous manifestation and indeterminate etiology, more common in postmenopausal women. It usually affects the anogenital region in conjunction with oral lesions. Isolated oral lesions are rare. A 57-year-old female patient was referred to a dental care center due to painful lesions located in the palate, gingiva, and oral mucosa, evolving for 6 months. Clinical examination showed: whitish, circumscribed, non-scrapable, firm lesions, in various sizes, scattered around the mucosa. Incisional biopsy revealed a saw-tooth pattern on the epithelium, showing areas of atrophy and others with a thick paraceratin layer. The connective tissue displayed diffuse chronic inflammatory infiltrate, close to the epithelium-connective junction. A sclerotic appearance, with an expressive collagen presence, was observed. The patient was thus diagnosed with lichen planus sclerosus and was referred to the dermatology service, where she has been undergoing treatment for 5 months, showing signs of improvement.

Significant efficacy of short-course, low-concentration betamethasone mouthwash therapy for severe erosive oral lichen planus: a randomized controlled trial.

To evaluate the short-term efficacy of low-concentration betamethasone mouthwash for severe erosive oral lichen planus (EOLP). In this randomized, investigator-blind, positive-controlled trial, OLP patients with erosive lesions received betamethasone mouthwash (0.137 mg/mL) or dexamethasone mouthwash (0.181 mg/mL) three times daily for 2 or 4 weeks and were followed up for 3 months to observe recurrence. The primary outcome was the week-2 reduction in erosive area. Fifty-seven participants were randomized to betamethasone (n = 29) and dexamethasone (n = 28). At week 2, participants using betamethasone (n = 28) experienced a greater reduction in erosive area than gargling with dexamethasone (n = 26). Similarly, secondary outcomes, including the healing proportion of erosions, reduced pain level, reduction in atrophic area, Thongprasom score, and recurrence interval, showed the superiority of betamethasone. At week 4, betamethasone (n = 7) was not superior to dexamethasone (n = 15) in further reducing lesional area and pain level. No serious adverse events were documented. The 0.137 mg/mL compound betamethasone mouthwash exhibited significant efficacy in rapidly enhancing erosion healing within 2 weeks and extending the recurrence interval with a good safety profile. This study proved the significant efficacy of short-course 0.137 mg/mL betamethasone mouthwash therapy for treating erosion and pain, providing a novel topical agent for patients with severe EOLP. This study was prospectively registered at the International Clinical Trials Registry Platform ( ChiCTR1800016507 ) on 5 June 2018.

Suspension of Anti-VEGF Treatment Does Not Affect Expansion of RPE Atrophy in Neovascular Age-Related Macular Degeneration.

To determine whether atrophy of the retinal pigment epithelium (RPE) in eyes with neovascular age-related macular degeneration (nAMD), which meets the criteria for the suspension of anti-vascular endothelial growth factor (anti-VEGF) treatment, is associated with anti-VEGF treatments. Twelve eyes of 12 patients with nAMD who began anti-VEGF treatment and were followed for 1 year after meeting the criteria for the suspension of anti-VEGF were studied. Six eyes of six patients were placed in the continuation group, and six eyes of six patients were placed in the suspension group. The RPE atrophic area at the time of the last anti-VEGF treatment was set as the baseline size and that at 12 months after the baseline (Month 12) was taken as the final size. A comparison of the expansion rate of RPE atrophy between the two groups was made by the square-root transformed differences. The expansion rate of atrophy was 0.55 (0.43, 0.72) mm/year in the continuation group and 0.33 (0.15, 0.41) mm/year in the suspension group. This difference was not significant. (p = 0.29). Suspension of anti-VEGF treatments in eyes with nAMD does not alter the expansion rate of RPE atrophy.

Factors Affecting Visual Acuity and Central Visual Function in Glaucoma Patients With Myopia

To investigate associated factors including structural parameters of myopia and vessel density (VD) using optical coherence tomography angiography (OCT-A) to visual acuity (VA) and central visual function in glaucoma patients with myopia. Retrospective cross-sectional study METHODS: Sixty-five eyes of 60 glaucoma patients with myopia and without media opacity and retinal lesions were include. Both Swedish interactive thresholding algorithm (SITA) 24-2 and 10-2 visual field (VF) testing were performed. Superficial and deep VD in the peripapillary and macular regions were evaluated using OCT-A; retinal nerve fiber layer (RNFL) and ganglion cell-inner plexiform layer (GCIPL) thicknesses were measured. β-zone peripapillary atrophy (PPA) area, disc torsion, disc-fovea distance, and peripapillary choroidal thickness were measured. Decreased VA was defined as best-corrected VA <20/25. The worse mean deviation of SITA 24-2, thinner GCIPL thickness, and lower deep peripapillary VD were associated with the presence of central VF damage in glaucoma patients with myopia. Thinner GCIPL thickness, lower deep peripapillary VD, and longer disc-fovea distance were associated with decreased VA in logistic regression analysis. Thinner GCIPL thickness, lower deep peripapillary VD, and larger β-zone PPA area were associated with lower VA in linear regression analysis. Deep peripapillary VD showed a positive correlation with GCIPL thickness, whereas there was no relationship between deep peripapillary VD and RNFL thickness. Decreased VA in glaucoma patients with myopia was associated with lower deep peripapillary VD and papillomacular bundle damage. Lower deep peripapillary VD was independently associated with decreased VA along with thinner GCIPL thickness. Therefore, this could be stated that decreased VA in glaucoma patients is related to the damage location and the status of blood flow in the optic nerve head.

Fundus autofluorescence in Extensive Macular Atrophy with Pseudodrusen (EMAP) and Diffuse Trickling Geographic Atrophy (DTGA).

To establish whether Extensive Macular Atrophy with Pseudodrusen (EMAP) can be distinguished from the diffuse trickling phenotype in geographic atrophy (DTGA) secondary to age-related macular degeneration on the basis of its features on blue-light autofluorescence (BAF). We reviewed our prospectively maintained database to enroll patients with a diagnosis of EMAP, DTGA, and non-DTGA with a minimum follow-up of 1 year. Atrophic areas and growth rates were measured on BAF images, using the Heidelberg Region Finder tool. Circularity and roundness were chosen as atrophy shape descriptors, extracted using ImageJ, and compared between disease groups. A total of 28 EMAP, 27 DTGA, and 30 non-DTGA eyes were included in the analysis. The median follow-up time was around 3.5 years. EMAP was characterized by an irregular and elongated shape (low circularity and low roundness) and associated with a fast atrophy growth rate (3.6 mm2/year), compared with non-DTGA. However, these parameters were not significantly different between EMAP and DTGA. Our study found that EMAP and DTGA cannot be effectively differentiated on fundus autofluorescence: in both diseases, the macular atrophic area has a major vertical axis, fringed borders, and fast progression.

Monitoring Lesion Area Progression in Stargardt Disease: A Comparison of En Face Optical Coherence Tomography and Fundus Autofluorescence.

To compare longitudinal changes in en face spectral domain-optical coherence tomography (SD-OCT) measurements of ellipsoid zone (EZ) and retinal pigment epithelium (RPE) loss to changes in the hypoautofluorescent and hyperautofluorescent (AF) areas detected with short-wavelength (SW)-AF in ABCA4-associated retinopathy. SD-OCT volume scans were obtained from 20 patients (20 eyes) over 2.6 ± 1.2 years (range 1-5 years). The EZ, and RPE/Bruch's membrane boundaries were segmented, and en face slab images generated. SubRPE and EZ slab images were used to measure areas of atrophic RPE and EZ loss. These were compared to longitudinal measurements of the hypo- and abnormal AF (hypoAF and surrounding hyperAF) areas. At baseline, the en face area of EZ loss was significantly larger than the subRPE atrophic area, and the abnormal AF area was significantly larger than the hypoAF area. The median rate of EZ loss was significantly greater than the rate of increase in the subRPE atrophic area (1.2 mm2/yr compared to 0.5 mm2/yr). The median rate of increase in the abnormal AF area was significantly greater than the increase in the hypoAF area (1.6 mm2/yr compared to 0.6 mm2/yr). En face SD-OCT can be used to quantify changes in RPE atrophy and photoreceptor integrity. It can be a complementary or alternative technique to SW-AF with the advantage of monitoring EZ loss. The SW-AF results emphasize the importance of measuring changes in the hypo- and abnormal AF areas. The findings are relevant to the selection of outcome measures for monitoring ABCA4-associated retinopathy.

ARA-net: an attention-aware retinal atrophy segmentation network coping with fundus images.

Accurately detecting and segmenting areas of retinal atrophy are paramount for early medical intervention in pathological myopia (PM). However, segmenting retinal atrophic areas based on a two-dimensional (2D) fundus image poses several challenges, such as blurred boundaries, irregular shapes, and size variation. To overcome these challenges, we have proposed an attention-aware retinal atrophy segmentation network (ARA-Net) to segment retinal atrophy areas from the 2D fundus image. In particular, the ARA-Net adopts a similar strategy as UNet to perform the area segmentation. Skip self-attention connection (SSA) block, comprising a shortcut and a parallel polarized self-attention (PPSA) block, has been proposed to deal with the challenges of blurred boundaries and irregular shapes of the retinal atrophic region. Further, we have proposed a multi-scale feature flow (MSFF) to challenge the size variation. We have added the flow between the SSA connection blocks, allowing for capturing considerable semantic information to detect retinal atrophy in various area sizes. The proposed method has been validated on the Pathological Myopia (PALM) dataset. Experimental results demonstrate that our method yields a high dice coefficient (DICE) of 84.26%, Jaccard index (JAC) of 72.80%, and F1-score of 84.57%, which outperforms other methods significantly. Our results have demonstrated that ARA-Net is an effective and efficient approach for retinal atrophic area segmentation in PM.

Blood flow in the optic nerve head in patients with primary aldosteronism.

Optic nerve head (ONH) blood flow decrease without changes in intraocular pressure in a possible rat model of retinal ganglion cell loss by systemic administration of aldosterone. To compare the blood flow in the ONH, using laser speckle flowgraphy (LSFG), in healthy eyes and in eyes with primary aldosteronism (PA). The ONH tissue area mean blur rate (MT) was evaluated in this single center, retrospective, cross-sectional study using LSFG. In order to compare the MT between PA patients and normal subjects, mixed-effects models were used, with adjustments made for the mean arterial pressure, disc area, and β-peripapillary atrophy (β-PPA) area. Mixed-effects models were also used to analyze the risk factors affecting the MT. This study evaluated a total of 29 eyes of 17 PA patients and 61 eyes of 61 normal subjects. There was a significantly lower MT in PA patients (10.8 ± 0.4) as compared to the normal subjects (12.3 ± 0.3) (P = 0.004). The MT was significantly lower in PA patients (10.8 ± 0.6) even after adjusting for the potential confounding factors when compared to normal subjects (12.3 ± 0.3) (P = 0.046). Multivariate mixed-effects model analysis demonstrated that the MT was significantly associated with the PA and β-PPA. There was a significantly lower ONH blood flow in PA patients as compared to normal subjects.

Deep-learning automated quantification of longitudinal OCT scans demonstrates reduced RPE loss rate, preservation of intact macular area and predictive value of isolated photoreceptor degeneration in geographic atrophy patients receiving C3 inhibition treatment

ObjectiveTo evaluate the role of automated optical coherence tomography (OCT) segmentation, using a validated deep-learning model, for assessing the effect of C3 inhibition on the area of geographic atrophy (GA);...

Deep phenotyping of PROM1-associated retinal degeneration

Background/aimsThe purpose of this study was to investigate retinal structure in detail of subjects with autosomal-dominant (AD) and autosomal-recessive (AR) PROM1-associated retinal degeneration (PROM1-RD), study design: institutional, cross-sectional study.MethodsFour eyes...

PHOTOBIOMODULATION THERAPY FOR LARGE SOFT DRUSEN AND DRUSENOID PIGMENT EPITHELIAL DETACHMENT IN AGE-RELATED MACULAR DEGENERATION: A Single-Center Prospective Pilot Study.

To evaluate visual acuity and morphologic changes after photobiomodulation (PBM) for patients affected with large soft drusen and/or drusenoid pigment epithelial detachment associated with dry age-related macular degeneration. Twenty eyes with large soft drusen and/or drusenoid pigment epithelial detachment age-related macular degeneration were included and treated using the LumiThera Valeda Light Delivery System. All patients underwent two treatments per week for 5 weeks. Outcome measures included best-corrected visual acuity, microperimetry-scotopic testing, drusen volume, central drusen thickness, and quality of life score at baseline and month 6 (M6) follow-up. Data of best-corrected visual acuity, drusen volume, and central drusen thickness were also recorded at week 5 (W5). Best-corrected visual acuity significantly improved at M6 with a mean score gain of 5.5 letters ( P = 0.007). Retinal sensitivity decreased by 0.1 dB ( P = 0.17). The mean fixation stability increased by 0.45% ( P = 0.72). Drusen volume decreased by 0.11 mm 3 ( P = 0.03). Central drusen thickness was reduced by a mean of 17.05 µ m ( P = 0.01). Geographic atrophy area increased by 0.06 mm 2 ( P = 0.01) over a 6-month follow-up, and quality of life score increased by 3,07 points on average ( P = 0.05). One patient presented a drusenoid pigment epithelial detachment rupture at M6 after PBM treatment. The visual and anatomical improvements in our patients support previous reports on PBM. PBM may provide a valid therapeutic option for large soft drusen and drusenoid pigment epithelial detachment age-related macular degeneration and may potentially slow the natural course of the disease.

Clinical Relevance of Computationally Derived Attributes of Peritubular Capillaries from Kidney Biopsies.

The association between peritubular capillary (PTC) density and disease progression has been studied in a variety of kidney diseases using immunohistochemistry. However, other PTC attributes such as PTC shape have not been explored yet. The recent development of computer vision techniques provides the opportunity for the quantification of PTC attributes using conventional stains and whole slide images. To explore the relationship between PTC characteristics and clinical outcome, n=280 periodic acid Schiff-stained kidney biopsies (88 minimal change disease, 109 focal segmental glomerulosclerosis, 46 membranous nephropathy, and 37 IgA nephropathy) from the NEPTUNE digital pathology repository were computationally analyzed. A previously validated deep learning model was applied to segment cortical PTCs. Average PTC aspect ratio (the PTC major to minor axis ratio), size (PTC pixels per PTC segmentation), and density (PTC pixels per unit cortical area) were computed for each biopsy. Cox proportional hazards models were used to assess associations between these PTC parameters and outcome (40% eGFR decline or kidney failure). Cortical PTC characteristics, and interstitial fractional space PTC density were compared between areas of interstitial fibrosis and tubular atrophy (IFTA) and areas without IFTA. When normalized PTC aspect ratio was below 0.6, a 0.1 increase in normalized PTC aspect ratio was significantly associated with disease progression, with a hazard ratio (95% confidence interval) of 1.28 (1.04-1.59) (p=0.019), while PTC density and size were not significantly associated with outcome. Interstitial fractional space PTC density was lower in areas of IFTA compared to non-IFTA areas. Computational image analysis enables quantification of the status of the kidney microvasculature and the discovery of a previously unrecognized PTC biomarker (aspect ratio) of clinical outcome.

COMPLEMENT INHIBITION FOR GEOGRAPHIC ATROPHY: Review of Salient Functional Outcomes and Perspective.

To evaluate available rationale and outcomes of randomized trial results for complement inhibition for geographic atrophy. Data from recently completed randomized trials of complement inhibition, particularly for pegcetacoplan and avacincaptad pegol, were evaluated for both the outcome, area of autofluorescence loss, and functional vision tests. Pegcetacoplan 2 mg showed statistically significant reduction in expansion of the area of autofluorescence loss with monthly, but not every-other-month dosing, in a 12-month phase two trial. Nearly 40% of patients recruited for the monthly arm did not complete the treatment. In two parallel phase 3 studies there was a statistically significant reduction in the area of atrophy in one but not both studies as compared with untreated controls. Data released at 24 months follow-up showed statistically significant reduction in the area of autofluorescence-detected atrophy in both studies compared with sham. Patients did not show functional difference in best-corrected visual acuity, maximum reading speed, Functional Reading Independence Index, and mean microperimetry threshold sensitivities in the treatment versus sham arms. Avacincaptad pegol was evaluated in two randomized pivotal studies and showed a statistically significant reduction in the expansion of autofluorescence loss at 12 months. Patients in the treatment arms did not show any difference as compared with sham in the best-corrected visual acuity or low luminance visual acuity, the only functional outcomes mentioned. Both drugs increased the risk of macular neovascularization. Both avacincaptad pegol and pegcetacoplan show significant differences compared with sham in autofluorescence imaging but no benefit in visual function at 12 and 24 months, respectively.

A physical sign of pathological myopia: myopic scleral pit

PurposeMyopic scleral pit (MSP) is a rare physical sign of pathological myopia (PM). The aim of this study was to summarize the clinical characteristics of MSP and analyze its correlation with PM.MethodsEight cases with PM and MSP were enrolled in this study. Comprehensive ophthalmic examinations, including subjective refraction, slit-lamp biomicroscope, intraocular pressure, fundus photographs, A- and B-scan ultrasonography and spectral-domain optical coherence tomography, were performed.ResultsAll the patients had a long history of PM with visual impairment, long axial length, and myopia-related fundus degeneration. Mean axial length was 31.48 ± 2.17 mm. Mean size of MSP was 0.69 ± 0.29 optic disc diameter (PD). Mean logMAR BCVA was 1.21 ± 0.88 logMAR. Spearman correlation analysis showed that the logMAR BCVA had no correlation with the size of pits (P = 0.34). Fundus examination revealed a focal pale concave located in the sclera exposed area of retinal choroid atrophy was found in all cases. OCT showed a deep scleral pit where the retinal choroid was thin or absent, without retinal sensory detachment or sensory defect.ConclusionsThis study identified a rare scleral lesion in all eight individuals with PM, which was termed “myopic scleral pit”. This phenomenon is different from focal choroidal excavation and posterior staphyloma.

Seven-year outcomes following intensive anti-vascular endothelial growth factor therapy in patients with exudative age-related macular degeneration

BackgroundAnti-vascular endothelial growth factor (VEGF) therapy is currently the most effective therapy of exudative age-related macular degeneration (AMD). The aim of this study was to assess long-term benefits of intensive aflibercept and ranibizumab anti-VEGF therapy in patients with exudative AMD.MethodsTwo clinical trial sites recruited their original subjects for a re-evaluation 7 years after the baseline visit of the phase-3 Vascular Endothelial Growth Factor (VEGF) Trap-Eye: Investigation of Efficacy and Safety in Wet Age-Related Macular Degeneration (VIEW 2) trial.Forty-seven eyes of 47 patients with AMD originally treated with ranibizumab (14 eyes) or aflibercept (33 eyes) were included.ResultsMean number of injections was 17.8 ± 3.0 during participation in the VIEW 2 trial. Fourteen of 47 (30%) eyes were given additional injections with a mean number of 5.7 ± 4.5 after the trial. At a mean follow-up time of 82 ± 5 months best corrected visual acuity (BCVA) remained stable or improved (≤ 10 letters lost) in 55% of patients in the entire study population, in 43% in the ranibizumab group and in 60% in the aflibercept group. In both groups combined mean BCVA was 54 ± 13 letters at baseline, 65 ± 17 letters at the end of the intensive phase and 45 ± 25 letters at the end of follow-up. There was no statistically significant difference in BCVA between the two groups at baseline (p = 0.88) and at the end of follow-up (p = 0.40). Macular atrophy was observed in 96% of eyes, average area was 7.22 ± 6.31 mm2 with no statistically significant difference between groups (p = 0.47). Correlation between BCVA at end-of-follow-up and the area of atrophy was significant (p < 0.001). At the end of follow-up, fluid was detected in 7 of 47 eyes (15%) indicating disease activity.ConclusionLong-term efficacy of aflibercept and ranibizumab was largely consistent. Following a two-year intensive therapy with as-needed regimen, BCVA was maintained or improved in almost half of the patients and in the ranibizumab group and more than half of the patients in the aflibercept group with very few injections. In a remarkable proportion of eyes, BCVA declined severely which underlines the need for long-term follow-ups and may indicate a more prolonged intensive therapy.Trial registrationsVIEW 2 study: ClinicalTrials.gov ID: NCT00637377, date of registration: March 18, 2008.Long-term follow-up: IRB nr.: SE RKEB 168/2022, ClinicalTrials.gov ID: NCT05678517, date of registration: December 28, 2022, retrospectively registered.

MPS-FFA: A multiplane and multiscale feature fusion attention network for Alzheimer’s disease prediction with structural MRI

Structural magnetic resonance imaging (sMRI) is a popular technique that is widely applied in Alzheimer’s disease (AD) diagnosis. However, only a few structural atrophy areas in sMRI scans are highly associated with AD. The degree of atrophy in patients’ brain tissues and the distribution of lesion areas differ among patients. Therefore, a key challenge in sMRI-based AD diagnosis is identifying discriminating atrophy features. Hence, we propose a multiplane and multiscale feature-level fusion attention (MPS-FFA) model. The model has three components, (1) A feature encoder uses a multiscale feature extractor with hybrid attention layers to simultaneously capture and fuse multiple pathological features in the sagittal, coronal, and axial planes. (2) A global attention classifier combines clinical scores and two global attention layers to evaluate the feature impact scores and balance the relative contributions of different feature blocks. (3) A feature similarity discriminator minimizes the feature similarities among heterogeneous labels to enhance the ability of the network to discriminate atrophy features. The MPS-FFA model provides improved interpretability for identifying discriminating features using feature visualization. The experimental results on the baseline sMRI scans from two databases confirm the effectiveness (e.g., accuracy and generalizability) of our method in locating pathological locations. The source code is available at https://github.com/LiuFei-AHU/MPSFFA.

Hirayama Disease: A Case Report

Hirayama disease is a rare non-progressive spinal muscular atrophy related to flexion movements of the neck. It is considered a benign motor neuron disorder with a stationary stage after a progressive course. We report a case of an 18-years old male with a history of asymmetric weakness and amyotrophy of the distal right upper extremity, suggestive of Hirayama disease. Magnetic resonance imaging (MRI) of the cervical spine was obtained both in flexion and neutral position. MRI showed loss of cervical lordosis with focal areas of lower cervical cord atrophy with increased T2 signal intensity of the spinal cervical cord in a neutral position and anterior displacement of the detached posterior dura from the underlying flexion position.

Using a combination of peripapillary atrophy area and choroidal thickness for the prediction of different types of myopic maculopathy.

To analyse the topographic characteristics in macular choroidal thickness (mChT) and ocular biometry in myopic maculopathy and to explore the potential cut-off value for prediction of myopic maculopathy (MM). All participants underwent detailed ocular examinations. MM was subdivided into thin choroid, Bruch's membrane (BM) defects, choroidal neovascularization (CNV), and myopic tractional maculopathy (MTM) according to OCT-based classification system. Peripapillary atrophy area (PPA), tilt ratio, torsion, and mChT were individually measured. A total of 1947 participants were included. In multivariate logistics models, older age, longer axial length, larger PPA area, and thinner average mChT were more likely to have MM and different type of MM. Female participants were more likely to have MM and BM defects. A lower tilt ratio was more likely to be associated with CNV and MTM. The area under the curve (AUC) of single tilt ratio, PPA area, torsion, and topographic of mChT for MM, thin choroid, BM Defects, CNV, and MTM were 0.6581 to 0.9423, 0.6564 to 0.9335, 0.6120 to 0.9554, 0.5734 to 0.9312, 0.6415 to 0.9382, respectively. After combining PPA area and average mChT for predicting MM, thin choroid, BM defects, CNV, and MTM, the AUC of the combination were 0.9678, 0.9279, 0.9531, 0.9213, 0.9317, respectively. Progressive and continuous PPA area expanding and thin choroid play a role in the development of myopic maculopathy. The present study showed that a combination of peripapillary atrophy area and the choroidal thickness could be used to predict MM and each type of MM.