Articles published on Macular sparing
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- Research Article
- 10.63620/mkjpnr.2026.1082
- Jan 1, 2026
- Journal of Psychiatry and Neurochemistry Research
- George Alencastro De Carvalho Paes Landim
Abstract Introduction: Amiodarone is a widely used antiarrhythmic agent associated with multiple systemic adverse effects, including rare but potentially vision-threatening optic neuropathy. Amiodarone-associated optic neuropathy (AAON) remains a controversial entity, with clinical features that may overlap with nonarteritic anterior ischemic optic neuropathy (NAION). Case Report: We report the case of a 56-year-old man with arterial hypertension who developed painless, bilateral sequential visual loss three months after initiation of amiodarone therapy for arrhythmia control. Ophthalmologic examination revealed reduced visual acuity, bilateral optic disc edema with peripapillary splinter hemorrhages, and inferior altitudinal visual field defects with relative macular sparing. Neuroimaging, cerebrospinal fluid analysis, and inflammatory markers were unremarkable. Given the temporal association between drug exposure and symptom onset, amiodarone was discontinued. Optic disc edema persisted for approximately three months, followed by bilateral optic disc pallor. At six-month follow-up, visual acuity and visual field defects remained unchanged, without improvement or further deterioration. Discussion: Amiodarone is a highly lipophilic drug that accumulates within lysosomes, interferes with lipid metabolism, and may disrupt axoplasmic flow through biochemical and mechanical mechanisms. Duration of exposure appears to be a more relevant risk factor than daily dosage. Visual outcomes after drug discontinuation are variable, ranging from improvement to permanent visual impairment. Conclusion: This case highlights the importance of considering AAON in patients receiving amiodarone who present with optic disc edema and visual field defects. Early recognition and appropriate management are essential to optimize visual outcomes
- Supplementary Content
- 10.1002/ccr3.71545
- Dec 25, 2025
- Clinical Case Reports
- Na Li + 1 more
ABSTRACTInherited retinal dystrophies are a complex group of disorders causing progressive vision loss. The ABCA4 gene is associated with a wide spectrum of retinopathies, most commonly Stargardt disease, which is characterized by central macular degeneration. Retinitis Pigmentosa (RP) is a less common but recognized ABCA4‐associated phenotype, typically involving severe, pan‐retinal degeneration. A 25‐year‐old male presented with a 5‐year history of nyctalopia and progressive peripheral visual field loss. Best‐corrected visual acuity was 1/20 in the right eye and 20/20 in the left eye. Fundus examination revealed pale optic discs, attenuated retinal arteries, and peripheral bone spicule‐like pigment deposits, with notable sparing of the macula. Genetic analysis identified compound heterozygous variants in the ABCA4 gene: a known pathogenic variant, c.4793C>A (p.Ala1598Asp), inherited from his father, and a novel variant, c.1769A>G (p.Asp590Gly), inherited from his mother. The novel variant was re‐evaluated according to ACMG/AMP guidelines and classified as likely pathogenic based on its absence in population databases, co‐segregation with disease, and high in silico prediction scores. This case presents a diagnostic challenge, with a clinical phenotype of macular sparing RP and strong genetic evidence implicating ABCA4. These findings expand the potential phenotypic spectrum of ABCA4‐retinopathy and underscore the critical role of genetic testing in diagnosing patients with atypical presentations of inherited retinal disease. Further investigation is needed to fully elucidate the pathogenic mechanism of the novel variant and its contribution to this unusual clinical picture.
- Research Article
- 10.1136/bjo-2025-328673
- Dec 25, 2025
- The British journal of ophthalmology
- David Szanto + 5 more
We characterised visual field (VF) spatial loss patterns in acute non-arteritic anterior ischaemic optic neuropathy (NAION) using archetypal analysis (AA). We performed standard automated perimetry on 727 participants with acute NAION at screening, day 1 of enrolment, months 2, 6 and 12. We applied AA, an unsupervised machine learning technique, to identify and quantify distinct VF loss patterns (archetypes, ATs). We used Mann-Whitney U tests and Wilcoxon signed-rank tests to assess demographic differences and longitudinal changes in discrete variables, and linear regression to analyse continuous variables. AA identified 10 distinct ATs, with three especially prevalent patterns: global VF loss (AT1), inferior altitudinal loss (AT2) and inferior altitudinal with macular sparing (AT3). Between day 1 and month 2, AT1 RW significantly increased from 15.7% to 28.1% (false discovery rate, FDR-adjusted p<0.001). Asian participants consistently exhibited greater RW for AT1 compared with White participants (day 1: 40.7% vs 17.7%; FDR-adjusted p<0.001). Sex differences emerged modestly at months 2 and 6, with females having a higher RW for superior altitudinal loss (FDR-adjusted p=0.049). Older participants showed slightly greater frequency of central horizontal and mild central depression patterns (FDR-adjusted p<0.001). AA effectively quantifies distinct, clinically significant VF spatial loss patterns in NAION, revealing significant temporal changes and demographic differences. Global VF loss represents the predominant AT, increasing notably within 2 months of disease onset. Prominent racial disparities, particularly higher severity in Asian individuals, underscore potential differences in NAION aetiology or susceptibility. These findings provide a foundation for improved disease characterisation and prognosis.
- Research Article
- 10.1136/bjo-2025-328147
- Sep 25, 2025
- The British journal of ophthalmology
- Xiaonan Zhuang + 11 more
To characterise the clinical and multimodal imaging features of large solitary peripheral retinal capillary haemangiomas (RCHs) and identify risk factors for distinct macular complications. In this cross-sectional study, eyes with a large (>1.5 mm) solitary peripheral RCH were included and stratified into three groups according to macular status: RCH with macular sparing (RCH-MS), with macular exudation (RCH-ME) and with macular traction (RCH-MT). Demographic, clinical and multimodal imaging data were collected and compared. Univariable and multivariable regression analyses were performed to assess risk factors. Among 69 eyes, 16 were classified as RCH-MS, 33 as RCH-ME and 20 as RCH-MT. Compared with RCH-MS, RCH-ME and RCH-MT exhibited significantly worse visual acuity. Multivariable analysis revealed that RCH-MT was associated with greater tumour-to-foveola distance (OR 1.347, 95% CI 1.024 to 1.771) and higher prevalence of fibrovascular proliferation overlying the RCH (OR 14.371, 95% CI 1.622 to 127.301). Feeding artery dilation was significantly associated with RCH-ME (OR 17.392, 95% CI 2.121 to 142.627) and worse visual acuity (β=0.374, 95% CI 0.023 to 0.724). Feeding artery beading was inversely associated with RCH-ME (OR 0.057, 95% CI 0.006 to 0.552) and correlated with better visual outcome (β=-0.472, 95% CI -0.894 to -0.051). The macular status of large solitary peripheral RCHs is influenced by tumour location, fibrovascular proliferation and feeding artery characteristics. These findings highlight the predictive value of multimodal imaging for macular involvement and visual outcomes and provide insights into the mechanisms underlying RCH-associated macular exudation and traction.
- Research Article
- 10.4102/aveh.v84i1.1037
- Jun 30, 2025
- African Vision and Eye Health
- Nishanee Rampersad + 3 more
Introduction: Homonymous hemianopia (HH), which refers to defects in the same half of the visual field in each eye, results from lesions that are posterior to the optic chiasm. Homonymous hemianopia may be classified as complete or incomplete depending on the characteristics of the visual field defect. Patient presentation: A 40-year-old woman was referred to the eye clinic. Her chief complaint was visual field loss, where she was unable to see objects to the left when looking straight ahead. The ocular examination revealed left complete HH without macular sparing. Management and outcome: The patient was fitted and trained with peripheral prism spectacles for distance viewing according to the method proposed by Peli. In the follow-up examinations, the patient subjectively reported improved awareness of objects on the left and better functional vision with the peripheral prism spectacles. Furthermore, the Humphrey Visual Field Analyser findings showed that the patient had some level of awareness of the test
- Research Article
- 10.1097/iae.0000000000004578
- Jun 23, 2025
- Retina (Philadelphia, Pa.)
- Federico Formenti + 5 more
Circinate Midperipheral Vitelliform Dystrophy With Macular Sparing in the Father of a Patient With Best Disease.
- Research Article
- 10.1007/s10384-025-01174-7
- Mar 1, 2025
- Japanese journal of ophthalmology
- Toshio Kurokawa + 3 more
To investigate the relationship between retinal ganglion cell complex (GCC) thinning following post-geniculate lesions and the time elapsed since cerebrovascular disorder (CVD) onset. Retrospective study. Forty-seven patients with hemianopic visual field defects (VFD) due to post-geniculate lesions were retrospectively enrolled from our clinical optical coherence tomography (OCT) database. GCC thickness was measured using spectral-domain OCT, with a 6 mm circle centered on the fovea divided into hemianopic and unaffected sides. The decline rate (DR) was calculated as the percentage reduction in GCC thickness on the hemianopic side relative to the unaffected side. Patients were grouped based on VFD patterns: complete homonymous hemianopia (A), homonymous hemianopia with macular sparing (B), homonymous scotomatous defects (C), superior quadrantanopia (D), and inferior quadrantanopia (E). A positive correlation (r = 0.581, p < 0.001) was found between the time elapsed since CVD onset and DR. More than 5% DR was observed in 29 of 47 cases (61.7%). Significant differences were noted between group A (specifically, the temporal lobe lesion) and group B (p = 0.0183), as well as between group A and group C (p = 0.0378). A significant correlation was observed between DR and the time elapsed. Several factors, such as lesion location, type, size, and the involvement of gray or white matter, influence retrograde trans-synaptic degeneration (RTSD). Our findings suggest that RTSD is influenced by the distance from the lateral geniculate nucleus (LGN).
- Research Article
- 10.33425/2639-9482.1042
- Feb 28, 2025
- Ophthalmology Research
- Marieta Dumitrache + 3 more
Hemianopsia is a visual field defect characterized by the loss of vision in one half of the visual field. It is caused by damage to the optic nerve, optic tract or the visual cortex in the brain. Common causes of hemianopsia are stroke, brain tumors, multiple sclerosis, migraine. Hemianopsia is Heteronymous and Homonymous. Heteronymous Hemianopsia is Bitemporal and Binasal. Bitemporal Hemianopsia is the pathognomonic for chiasmal lesions in pituitary adenomas (bitemporal hemianopsia and for colors green, red), craniopharyngiomas (asymmetric bitemporal hemianopsia). Binasal heteronymous hemianopsia is rare. Homonymous hemianopsia (with reduced acuity visual) is present in retrochiasmatic lesions: optic chiasmatic gliomas, arachnoiditis opto-chiasmatic, carotid aneurysms, trauma. Homonymous hemianopsia is right or left. Cause of homonymous hemianopsia is injury located at the occipital lobe 45%, to the optic radiation 12%, optic tract 10%, lateral geniculate nucleus 1,3%. Homonymous hemianopsia are field defects congruent, or incongruent. Temporal lobe lesions produce superior homonymous hemianopsia “pie in the sky” hemianopsia, frequently incongruent. Parietal lobe lesions produce homonymous hemianopsia inferior “pie on the floor”. Homonymous hemianopsia macular sparing, homonymous scotomas is present in occipital lobe lesions without other neurological deficits symptoms.
- Research Article
- 10.1111/aos.17358
- Jan 1, 2025
- Acta Ophthalmologica
- Corinne Gonzalez
Aims/Purpose: This multimodal study of High Myopia with Atrophy areas, patchy atrophies of retina to analyze retina layers structure, focusing on outer retinal layers, particularly photoreceptor and Retinal pigment epithelium layers, their evolution, their impact on visual fonction. So the prospects of High Myopia's Atrophy complications.Methods: A total of 84 eyes from 44 patients, with High Myopia. Multimodal study includes mainly OCT, notably OCT en Face (Spectralis HRA‐OCT, spectral domain OCT), combined with Autofluorescence, IR imaging, Fluorescein (FA) and Infracyanine (ICG) angiography (SLO Spectralis HRA‐OCT) (mainly when suspicion of subretinal neovascular complication). ETDRS visual acuity (VA), complete ophthalmic examination with Fundus exam were added. Follow‐up was done every year during 8 years.Results: VA remain stable in 42% cases, impaired in 58% cases. Multimodal analyze highlight 15% stable, 85% Atrophy area increase, (patchy atrophies: 74% cases, peripapillary atrophy: 26% cases). Development of Atrophy include: increase of width, surface, perimeter of atrophic areas, thinning, fragmentation of retinal layers, particularly photoreceptor and retinal pigment epithelium layers. Combined Neovascular complication occurred in 27% cases (series of 3 IVT of Anti VEGF were done when neovascular activity was confirmed). Visual function condition depends on Topography of Atrophy, Atrophic areas, patchy atrophies too, Morphology of Atrophy, Atrophic areas, patchy atrophies too (width and length), their Evolution, and Macular Sparing. Atrophy complication of High Myopia leads to ask involvement of collagen, fibroelastic tissues physiopathology, genetic factors, way of life, key role of Age Macular Degeneration in High Myopia Elderly eyes. Those are the Prospects.Conclusions: High Myopia with ATROPHY complication is a great question to better consider follow‐up protocol, screening, particularly of and when neovascular complication sometimes here with. Multimodal analysis enables better precision, discrimination in Atrophy assessment, evolution, so, issue to preserve visual function and allows to better manage the prospects.
- Research Article
- 10.1055/a-2427-3556
- Dec 6, 2024
- Klinische Monatsblatter fur Augenheilkunde
- Ulrich Schiefer + 2 more
The aim of this study was to develop, optimise, train, and evaluate an algorithm for performing Supervised Automated Kinetic Perimetry (SAKP) using digitalised perimetric simulation data. The original SAKP algorithm was based on findings from a multicentre study to establish reference values by semi-automated kinetic perimetry (SKP) combined with an automated examination method with moving stimuli ("Program K", developed in Japan). The algorithm evaluated the outer angles of isopter segments and responded to deviations from expected values by placing examination vectors to measure the outer boundaries of the visual field (VF). Specialised interpolation methods were also used to create individual 3D hills of vision and local "probing vectors" to optimise the eccentricity of the vector origins. This algorithm was trained iteratively on seven representative digitalised 3D VF results from five typical classes and optimised in each step: (1) Normal VF, (2) Central scotoma, (3) Concentric VF constriction, (4) Retinal nerve fibre layer defects in the visual field (VFDs), (5) VFDs with respect to the vertical meridian. The optimised SAKP algorithm was then applied to a new set of twenty 3D VF results of varying origin and severity. The primary targets were measured in agreement between actual calculated VF expressed as accuracy (A), that is, the ratio between the area containing correct predictions and total area of predictions measured between 0 = worst and 1 = best, and examination duration (T). The results are given as median (and interquartile range). We also verified the test's robustness by varying individual error rates (ERs) and error magnitudes (EMs). The median and interquartile range (IQR, in brackets) for the total of representative VFs were 0.93 (0.02) for A and 7.0 min (5.2 min) for T, respectively. A gave the best result for altitudinal VFDs and VFDs with hemianopic character and macular sparing (0.98 each) and worst in superior wedge-shaped VFDs (0.78); T was shortest in blind spot displacement (3.9 min) and longest in hemianopic VFDs with hemianopic character and macular sparing with preserved temporal crescent (12.1 min). Error rate and magnitude (up to 30% each) only showed a comparatively low influence on A and T. The SAKP algorithm presented here achieves a comparatively high degree of accuracy and robustness for actual, simulated visual field data within acceptable examination times. This algorithm is currently being prepared for application in real patient examinations under clinical conditions.
- Research Article
- 10.30574/ijsra.2024.13.1.2031
- Oct 30, 2024
- International Journal of Science and Research Archive
- Shubham Sehgal + 3 more
This case report presents imaging of a 38-year-old male who was diagnosed with Benign Familial Fleck Retina (BFFR) which is an uncommon disorder. Fundus photographs revealed retinal flecks that affected his post-equatorial retina and spared the macular area. His full-field electroretinogram and electrooculogram were normal. An optical coherence tomography B-scan was performed for both of his eyes, and it revealed increased thickness of the retinal pigmented epithelium which led to multiple small pigmented epithelium detachments. The outer retina was intact in both of his eyes. Benign familial fleck retina belongs to a heterogenous group of flecked retina syndromes, and should be considered in patients with yellowish-white retinal lesions with macular sparing.
- Research Article
1
- 10.1097/iae.0000000000004175
- Oct 1, 2024
- Retina (Philadelphia, Pa.)
- Joshua Seokju Kim + 6 more
Antiretroviral therapy has revolutionized HIV treatment with didanosine (DDI) as a pioneering drug. However, DDI has been associated with retinal toxicity, characterized by peripheral chorioretinal degeneration with macular sparing. Despite its clinical recognition, the prevalence and risk factors for didanosine-induced retinopathy are not well described. This retrospective case series analyzed 127 DDI-treated patients at Weill Cornell Medicine Department of Ophthalmology. Inclusion criteria included at least 6 months of DDI use and available ultra-widefield imaging. Patients were categorized as affected or unaffected based on retinal imaging assessed by two reviewers. The affected group was further divided into "probable" or "possible" retinopathy. Patient demographics, DDI usage characteristics, and imaging findings were analyzed with statistical comparisons drawn between affected and unaffected cohorts. Of the 127 patients, 9 (7%) showed signs of didanosine-induced retinal toxicity. On average, the affected group was older compared with the unaffected group (65.1 vs. 56.5 years, P = 0.025), with lower BMI (23.2 vs. 27.4, P = 0.04), and older at the start of the treatment (51.6 vs. 40.8 years, P = 0.026). Mild phenotypes with peripheral pigmentary changes were also identified using ultra-widefield imaging. This pioneering academic study highlighted a notable prevalence of DDI-induced retinal toxicity. Statistical analysis demonstrated age, BMI, and age at treatment initiation as potential risk factors. Ultra-widefield autofluorescence emerged as a valuable tool in detecting and delineating findings. Follow-up studies are needed to determine the necessity of regular screening for individuals on or with a history of didanosine use.
- Research Article
- 10.1177/15459683241247536
- Apr 25, 2024
- Neurorehabilitation and Neural Repair
- Yukihisa Suzuki + 2 more
Background and Objective Homonymous hemianopia caused by cerebrovascular disease may improve over time. This study investigated whether functional neuroimaging can predict the prognosis of hemianopia due to cerebral infarction. Methods We studied 19 patients (10 men and 9 women) with homonymous hemianopia and compared them with 34 healthy subjects (20 men and 14 women). Cerebral glucose metabolism was measured by 18F-fluorodeoxyglucose positron emission tomography (FDG-PET), 1 to 6 months after the onset. Bilateral regions of interest (ROIs) were selected from the posterior and, anterior striate cortices, extrastriate cortex, and thalamus. Furthermore, semi-quantitative data on cerebral glucose metabolism were obtained for ROIs and compared with the data obtained for homologous regions in the contralateral hemisphere by calculating the ipsilateral/contralateral (I/C) ratio. Results The I/C ratio for the cerebral glucose metabolism in the posterior striate cortex was high (>0.750) in 8 patients, and the central visual field of these patients improved or showed macular sparing. The I/C ratio for cerebral glucose metabolism in the anterior striate cortex was high (>0.830) in 7 patients, and the peripheral visual field of these patients improved. However, no improvement was observed in 9 patients with a low I/C ratio for cerebral glucose metabolism in both the posterior and anterior striate cortices. Conclusion Measurement of cerebral glucose metabolism in the striate cortex is useful for estimating visual field prognosis. Furthermore, FDG-PET is useful in predicting the prognosis of hemianopia.
- Research Article
- 10.35479/ijretina.2024.vol007.iss001.268
- Feb 27, 2024
- International Journal of Retina
- I Nyoman Surya Ari Wahyudi + 1 more
Introduction: To report the successful single operative method using Pneumatic Retinopexy as management of rhegmatogenous retinal detachment following ocular blunt trauma. Case Report: A 17 years old boy admitted to clinic with blurred vision in lower part of right eye that worsen over time for 3 weeks with a history of blunt trauma. Initial examination showed the visual acuity of 6/6 on both eyes. Posterior segment evaluation revealed superior retinal detachment on right eye with macular sparing. The main retinal break located in superotemporal part. Patient then treated with Pneumatic Retinopexy using SF6 gas followed by a serial of laser demarcation on right eye. Three months follow up after procedure resulted in reattachment of retina with preserved visual acuity of 6/6 and reduced visual field defect on right eye. Discussion: Rhegmatogenous retinal detachment is the most common form of retinal detachment. Specific procedure of Pneumatic Retinopexy may vary based on expert preference respective surgery. However procedures should always include retinopexy, tamponade by gas and posturing of the patient. Conclusion: Pneumatic Retinopexy is a minimally invasive procedure that can be performed for the management of rhegmatogenous retinal detachment. In order to optimizing post operative outcome, ophthalmologists must be able to select suitable patient, proper examinations and good surgical techniques to achieve a high success rate.
- Research Article
- 10.35749/7bw29b39
- Feb 12, 2024
- Ophthalmologica Indonesiana
- Aulia Purnama Effendi + 1 more
Abstract
 Introduction : Stroke are generally associated with peripheral visual field loss. Three out of four stroke patients report some form of disability, one of which is visual impairment. Approximately 16% of these patients have a homonymous visual field defect poststroke. These vision problems can lead to difficulty carrying out a lot of daily tasks and activities, such as driving. This report tries to define the diagnostic flow to determine the exact type and lesion.
 Case Illustration : Male, 61 years old, came to Universitas Sumatera Utara Hospital with visual field loss in both eyes. Two months ago, he was diagnosed with ischemic stroke and treated with Aspirin 80 mg, with no limbs disability right now. He also had hypertension and treated with Amlodipine 10 mg. VOD: 6/60 with BCVA S-2.00 6/7,5, VOS: 6/60 with BCVA S-2.00 6/7.5. With confrontation test and perimetry, defect was found in medial visual field OD and lateral visual field OS. Hess screen and Amsler Grid was normal. Head CT-Scan was performed with multiple infarcts, mainly in right occipital lobe. The patient was diagnosed with Incomplete Hemianopia, Left Congruous Homonymous Hemianopia with Macular Sparing, and treated with Citicholine 1000 mg once daily.
 Discussion
 Conclusion : In stroke patients with homonymous visual field loss, visual field testing with detailed evaluation of visual field defect can determine the lesion location, and neuro-radiological imaging was necessary to assess visual pathway. It’s important for educate the patients, diagnostic and prevent the stroke recurrent.
- Research Article
- 10.1111/aos.15892
- Jan 1, 2024
- Acta Ophthalmologica
- Verena Schöneberger + 7 more
Aims/Purpose: Formation of a full‐thickness macular hole (MH) after vitrectomy is extremely rare. Previous studies only included small numbers of cases. Aim of the present study was to describe course, functional prognosis and risk factors of secondary macular hole development following surgical treatment of a primary rhegmatogenous retinal detachment (RRD) in a large data set from two tertiary eye clinics.Methods: Formation of a full‐thickness macular hole (MH) after vitrectomy is extremely rare. Previous studies only included small numbers of cases. Aim of the present study was to describe course, functional prognosis and risk factors of secondary macular hole development following surgical treatment of a primary rhegmatogenous retinal detachment (RRD) in a large data set from two tertiary eye clinics.Results: Out of 9317 eyes following PPV 28 eyes (mean age 58.7 ± 9.6 yrs, 50% male, 60.7% right eyes) could be included. The interval between vitrectomy and MH formation was 46.9 ± 80.3 (range: 1–373) months. 15 eyes showed history of macular involving RRD, 7 macular sparing RRD. Sulphur‐hexafluoride (SF6) 20–25% was used as endotamponade in 18 cases for RRD repair, silicone oil (Sil5000® and Sil2000®) in 4 cases. Six cases were not assessable due to earlier external surgery. In secondary MH re‐PPV with SF6 20–25% endotamponade in 21 eyes (thereof with an ILM flap in 8 cases), Sil5000® in 6 eyes and Densiron® in one eye was performed. A primary closure rate of 88.2% with gas was achieved with a final best corrected visual acuity of 0.67 ± 0.99 logMAR. Degree of myopia, which correlated with functional results (p = 0.019) and earlier time of onset (p = 0.007), as well as timing of cataract surgery (p < 0.001) could be identified as risk factor for secondary MH development.Conclusions: Secondary MH after RRD repair is rare. In our study with the largest cohort studied so far, we can identify risk factors that lead to earlier MH formation. Myopia was shown to be a prognostic factor for functional outcome.
- Research Article
4
- 10.1007/978-3-031-27681-1_15
- Jan 1, 2023
- Advances in experimental medicine and biology
- Salvatore Marco Caruso + 6 more
Mutations in peripherin 2 (PRPH2) are associated with a spectrum of inherited retinal diseases (IRDs) including retinitis pigmentosa (RP) and macular degeneration. As PRPH2 is localized to cone and rod outer segments, mutations in PRPH2 lead the disorganization or absence of photoreceptor outer segments. Here, we report on a patient with PRPH2-linked RP who exhibited widespread RPE atrophy with a central area of macular atrophy sparing the fovea. In future studies, we plan to model the pathobiology of PRPH2-based RP using induced pluripotent stem cell (iPSC)-derived retinal organoids. To effectively model rare mutations using iPSC-derived retinal organoids, we first require a strategy that can install the desired mutation in healthy wild-type iPSC, which can efficiently generate well-laminated retinal organoids. In this study, we developed an efficient prime editing strategy for the installation of the pathogenic PRPH2 c.828+1 G>A splice-site mutation underlying our patient's disease.
- Research Article
- 10.4103/ijo.ijo_2864_21
- Jul 1, 2022
- Indian Journal of Ophthalmology - Case Reports
- Shruti Nishanth + 5 more
Bilateral inferior visual field loss (BIVFL) is a rare entity, and rehabilitation of such patients can be challenging. Peli prisms are a good option for visual rehabilitation in horizontal homonymous hemianopias. Here we present an interesting case of BIVFL with macular sparing, successfully rehabilitated with a novel vertical orientation of Peli prism.
- Research Article
1
- 10.1186/s40942-022-00382-4
- Jun 17, 2022
- International Journal of Retina and Vitreous
- Eduardo Cunha De Souza + 5 more
BackgroundWe believe that our experience with patients presenting with Coats disease and macular sparing should be shared with our colleagues. We would like to show the effect of posture and prompt intervention in cases with fovea-threatening and/or fovea-involving peripheral Coats disease (FTPCD). This association has been poorly debated in our specialty and literature. We call the attention for the unexpexted scenario of observing the lost of the fovea during some types of traditional and prompt interventional treatments of these cases with previous 20/20 vision (something that we have been studying and observing for many years). In order to publish our best representative cases, we have chosen 8 Brazilian patients (age range, 7–62 years; 5 male) with FTPCD. All patients underwent multimodal imaging and different treatments (observation, sleep-posture repositioning, laser, intraocular steroids, and/or anti-vascular endothelial growth factor therapy). All patients, initially, informed to adopt a sleeping lateral-down position, favoring exudation shifting to the fovea pre-treatment. Most promptly-treated patients in this way (n = 4), developed subretinal fluid and exudates in the macula and some had irreversible central visual loss (n = 3). Patients with recent fovea-involving exudation who changed postural sleep position (to protect the foveal area) before and during treatment fared better, with some preserved central vision and an intact fovea (n = 5). The fundus status was correlated with the gravitational effects of posture before and after treatment. Despite prepared as an observational/interventional study, with a small number of cases, the most difficult part is documenting the sleep position of these patients and its influence in the outcomes as there is not good way to prove how well or poorly the positioning occurred in our cases. Finally, we also intended to call the attention to the fact that Coats disease must be studied in all its clinical stage variants and not only seen as a potential blinding and incurable ocular disease.Case presentationThis study is a retrospective and/or interventional analysis of eight cases with a less severe clinical variant of classic Coats disease that we refer to as fovea-threatening and fovea-involving peripheral Coats disease (FTPCD).All cases were unilateral with no systemic disease or family history of Coats disease. The bilateral anterior segment and intraocular pressure were normal in all patients. The characteristics of all patients are shown in the Table.ConclusionThe funduscopic features of FTPCD are fundamental to disease understanding and optimal management. Habitual posturing may affect the fundus morphologic features of retinal exudation as observed in all current patients with exudative peripheral Coats disease. When sleep habitual posture is not observed in patients with FTPCD, the effects of prompt invasive treatments can cause rapid visual loss because of foveal subretinal pooling of exudates post-treatment. Initial vigilant adjusting of the habitual sleep posture for several patients with FTPCD, before the indication of traditional invasive treatments (laser and/or pharmacologic medications) can result in improved vision and fundoscopic morphologic features.
- Research Article
1
- 10.1097/wno.0000000000001601
- Jun 14, 2022
- Journal of Neuro-Ophthalmology
- Juno Cho + 2 more
Perimetry is widely used in the localization of retrochiasmal visual pathway lesions. Although macular sparing, homonymous paracentral scotomas, and quadrantanopias are regarded as features of posterior retrochiasmal visual pathway lesions, incongruous hemianopia is regarded as a hallmark of anterior lesions. Recent studies have questioned the specificity of these defect patterns. Retrospective record review conducted in a single, academic, medical center using an electronic search engine with the terms ""homonymous hemianopia," "optic tract," "temporal lobectomy," "visual field defect," and "MRI." Patients were included if they had reliable, automated, static visual fields, high-quality reviewable MRI scans, and pertinent lesions. MRI lesions were assigned to 1 of 6 retrochiasmal visual pathway segments by the study neuroradiologist. Two study authors independently reviewed the visual fields and designated 10 different defect patterns. From an original cohort of 256 cases, only 83 had MRI-defined lesions that were limited to particular retrochiasmal segments and had visual field defect patterns that allegedly permitted localization to those particular segments. The 5 contralateral nerve fiber bundle defects were exclusive to optic tract tumors with rostral extension. Pie-in-the-sky defects were exclusive to Meyer loop lesions. Among 22 fields with macular sparing, 86% arose from the visual cortex or posterior optic radiations. Among 31 fields with homonymous quadrantanopias, 77% arose from Meyer loop, visual cortex, or posterior optic radiations. Among 13 fields with homonymous paracentral scotomas, 69% arose from visual cortex or posterior optic radiations. Optic tract lesions accounted for 70% of incongruous hemianopias but that pattern occurred uncommonly. In correlating discrete MRI-defined retrochiasmal lesions with visual field defect patterns identified on static perimetry, this study showed that macular sparing, homonymous paracentral scotomas, and quadrantanopias localized to the visual cortex and posterior optic radiations segments but not exclusively. It has differed from an earlier study in showing that incongruous hemianopias occur predominantly from optic tract lesions.