Orphanet J Rare Dis. 2023 Sep 4;18(1):264. doi: 10.1186/s13023-023-02886-0.

ABSTRACT

BACKGROUND: Leigh Syndrome (LS) is a rare genetic neurometabolic disorder, that leads to the degeneration of the central nervous system and subsequently, early death. LS can be caused by over 80 mutations in mitochondrial or nuclear DNA. Patient registries are important for many reasons, such as studying the natural history of the disease, improving the quality of care, and understanding the healthcare burden. For rare diseases, patient registries are significantly important as patient numbers are small, and funding is limited. Cure Mito Foundation started a global patient registry for LS in September 2021 to identify and learn about the LS patient population, facilitate clinical trial recruitment, and unite international patients and researchers. Priorities were to allow researchers and industry partners to access data at no cost through a clear and transparent process, active patient engagement, and sharing of results back to the community.

RESULTS: Patient registry platform, survey design, data analysis process, and patient recruitment strategies are described. Reported results include demographics, diagnostic information, symptom history, loss of milestones, disease management, healthcare utilization, quality of life, and caregiver burden for 116 participants. Results show a high disease burden, but a relatively short time to diagnosis. Despite the challenges faced by families impacted by Leigh syndrome, participants, in general, are described as having a good quality of life and caregivers are overall resilient, while also reporting a significant amount of stress.

CONCLUSION: This registry provides a straightforward, no-cost mechanism for data sharing and contacting patients for clinical trials or research participation, which is important given the recruitment challenges for clinical trials for rare diseases. This is the first publication to present results from a global patient registry for Leigh Syndrome, with details on a variety of patient-specific and caregiver outcomes reported for the first time. Additionally, this registry is the first for any mitochondrial disease with nearly 70% of participants residing outside of the United States. Future efforts include continued publication of results and further collaboration with patients, industry partners, and researchers.

PMID:37667390 | PMC:PMC10476366 | DOI:10.1186/s13023-023-02886-0

Orphanet J Rare Dis. 2023 Sep 4;18(1):269. doi: 10.1186/s13023-023-02891-3.

ABSTRACT

BACKGROUND: A recurrent de novo variant (c.892C>T) in NACC1 causes a neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination (NECFM). An unusual and consistently reported feature is episodic extreme irritability and inconsolability. We now characterize these episodes, their impact on the family, and ascertain treatments that may be effective. Parents of 14 affected individuals provided narratives describing the irritability episodes, including triggers, behavioral and physiological changes, and treatments. Simultaneously, parents of 15 children completed the Non-communicating Children's Pain Checklist-Revised (NCCPC-R), a measure to assess pain in non-verbal children.

RESULTS: The episodes of extreme irritability include a prodromal, peak, and resolving phase, with normal periods in between. The children were rated to have extreme pain-related behaviors on the NCCPC-R scale, although it is unknown whether the physiologic changes described by parents are caused by pain. Attempted treatments included various classes of medications, with psychotropic and sedative medications being most effective (7/15). Nearly all families (13/14) describe how the episodes have a profound impact on their lives.

CONCLUSIONS: NECFM caused by the recurrent variant c.892C>T is associated with a universal feature of incapacitating episodic irritability of unclear etiology. Further understanding of the pathophysiology can lead to more effective therapeutic strategies.

PMID:37667351 | PMC:PMC10476425 | DOI:10.1186/s13023-023-02891-3

Orphanet J Rare Dis. 2023 Sep 4;18(1):267. doi: 10.1186/s13023-023-02864-6.

ABSTRACT

BACKGROUND: Estimates of rare disease (RD) population impact in terms of number of affected patients and accurate disease definition is hampered by their under-representation in current coding systems. This study tested the use of a specific RD codification system (ORPHAcodes) in five European countries/regions (Czech Republic, Malta, Romania, Spain, Veneto region-Italy) across different data sources over the period January 2019-September 2021.

RESULTS: Overall, 3133 ORPHAcodes were used to describe RD diagnoses, mainly corresponding to the disease/subtype of disease aggregation level of the Orphanet classification (82.2%). More than half of the ORPHAcodes (53.6%) described diseases having a very low prevalence (< 1 case per million), and most commonly captured rare developmental defects during embryogenesis (31.3%) and rare neurological diseases (17.6%). ORPHAcodes described disease entities more precisely than corresponding ICD-10 codes in 83.4% of cases.

CONCLUSIONS: ORPHAcodes were found to be a versatile resource for the coding of RD, able to assure easiness of use and inter-country comparability across population and hospital databases. Future research on the impact of ORPHAcoding as to the impact of numbers of RD patients with improved coding in health information systems is needed to inform on the real magnitude of this public health issue.

PMID:37667299 | PMC:PMC10476382 | DOI:10.1186/s13023-023-02864-6

World J Gastroenterol. 2023 Aug 21;29(31):4809-4814. doi: 10.3748/wjg.v29.i31.4809.

ABSTRACT

BACKGROUND: Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease with unknown etiology. Data on the genetic background in SRUS is lacking.

CASE SUMMARY: Here, we report the first case of SRUS in a mother-son relationship. Gene sequencing was conducted on the whole family, which revealed an inherited CHEK2 p.H371Y mutation. The experiment preliminarily revealed that the CHEK2 mutation did not affect the expression of CHEK2 protein, but affected the function of CHEK2, resulting in the expression level changes of downstream genes such as CDC25A.

CONCLUSION: SRUS is a genetic susceptibility disease where CHEK2 p.H371Y mutation may play a crucial role in the development and prognosis of SRUS.

PMID:37664155 | PMC:PMC10473918 | DOI:10.3748/wjg.v29.i31.4809

Pan Afr Med J. 2023 Jun 20;45:88. doi: 10.11604/pamj.2023.45.88.38964. eCollection 2023.

ABSTRACT

Pachydermoperiostosis is a rare genetic disease known as primary or idiopathic hypertrophic osteoarthropathy (HOA)/Touraine-Solente-Gole syndrome. It is an autosomal dominant or recessive disorder comprising digital clubbing, periostosis, hyperhidrosis, and pachydermia (thickening of facial skin). Ocular manifestations are uncommon; however, blepharoptosis may occur. This case presented with severe bilateral ptosis due to the disease progression. A large 20 mm upper lid resection with levator advancement was performed to improve his ability to see. This is the first reported case of pachydermoperiostosis (PDP) in Jamaica. We present a rare case of pachydermoperiostosis with severe blepharoptosis, who attained a good result with surgical intervention.

PMID:37663630 | PMC:PMC10474806 | DOI:10.11604/pamj.2023.45.88.38964

Sci Rep. 2023 Sep 3;13(1):14495. doi: 10.1038/s41598-023-41545-z.

ABSTRACT

Monkeypox is a rare viral disease that can cause severe illness in humans, presenting with skin lesions and rashes. However, accurately diagnosing monkeypox based on visual inspection of the lesions can be challenging and time-consuming, especially in resource-limited settings where laboratory tests may not be available. In recent years, deep learning methods, particularly Convolutional Neural Networks (CNNs), have shown great potential in image recognition and classification tasks. To this end, this study proposes an approach using CNNs to classify monkeypox skin lesions. Additionally, the study optimized the CNN model using the Grey Wolf Optimizer (GWO) algorithm, resulting in a significant improvement in accuracy, precision, recall, F1-score, and AUC compared to the non-optimized model. The GWO optimization strategy can enhance the performance of CNN models on similar tasks. The optimized model achieved an impressive accuracy of 95.3%, indicating that the GWO optimizer has improved the model's ability to discriminate between positive and negative classes. The proposed approach has several potential benefits for improving the accuracy and efficiency of monkeypox diagnosis and surveillance. It could enable faster and more accurate diagnosis of monkeypox skin lesions, leading to earlier detection and better patient outcomes. Furthermore, the approach could have crucial public health implications for controlling and preventing monkeypox outbreaks. Overall, this study offers a novel and highly effective approach for diagnosing monkeypox, which could have significant real-world applications.

PMID:37661211 | PMC:PMC10475460 | DOI:10.1038/s41598-023-41545-z

J Cell Sci. 2023 Sep 1;136(17):jcs260857. doi: 10.1242/jcs.260857. Epub 2023 Sep 1.

ABSTRACT

Studies of rare human genetic disorders of mitochondrial phospholipid metabolism have highlighted the crucial role that membrane phospholipids play in mitochondrial bioenergetics and human health. The phospholipid composition of mitochondrial membranes is highly conserved from yeast to humans, with each class of phospholipid performing a specific function in the assembly and activity of various mitochondrial membrane proteins, including the oxidative phosphorylation complexes. Recent studies have uncovered novel roles of cardiolipin and phosphatidylethanolamine, two crucial mitochondrial phospholipids, in organismal physiology. Studies on inter-organellar and intramitochondrial phospholipid transport have significantly advanced our understanding of the mechanisms that maintain mitochondrial phospholipid homeostasis. Here, we discuss these recent advances in the function and transport of mitochondrial phospholipids while describing their biochemical and biophysical properties and biosynthetic pathways. Additionally, we highlight the roles of mitochondrial phospholipids in human health by describing the various genetic diseases caused by disruptions in their biosynthesis and discuss advances in therapeutic strategies for Barth syndrome, the best-studied disorder of mitochondrial phospholipid metabolism.

PMID:37655851 | PMC:PMC10482392 | DOI:10.1242/jcs.260857

Orphanet J Rare Dis. 2023 Sep 1;18(1):262. doi: 10.1186/s13023-023-02819-x.

ABSTRACT

BACKGROUND: When assessing the efficacy of a treatment in any clinical trial, it is recommended by the International Conference on Harmonisation to select a single meaningful endpoint. However, a single endpoint is often not sufficient to reflect the full clinical benefit of a treatment in multifaceted diseases, which is often the case in rare diseases. Therefore, the use of a combination of several clinically meaningful outcomes is preferred. Many methodologies that allow for combining outcomes in a so-called composite endpoint are however limited in a number of ways, not in the least in the number and type of outcomes that can be combined and in the poor small-sample properties. Moreover, patient reported outcomes, such as quality of life, often cannot be integrated in a composite analysis, in spite of their intrinsic value.

RESULTS: Recently, a class of non-parametric generalized pairwise comparisons tests have been proposed, which members do allow for any number and type of outcomes, including patient reported outcomes. The class enjoys good small-sample properties. Moreover, this very flexible class of methods allows for prioritizing the outcomes by clinical severity, allows for matched designs and for adding a threshold of clinical relevance. Our aim is to introduce the generalized pairwise comparison ideas and concepts for rare disease clinical trial analysis, and demonstrate their benefit in a post-hoc analysis of a small-sample trial in epidermolysis bullosa. More precisely, we will include a patient relevant outcome (Quality of life), in a composite endpoint. This publication is part of the European Joint Programme on Rare Diseases (EJP RD) series on innovative methodologies for rare diseases clinical trials, which is based on the webinars presented within the educational activity of EJP RD. This publication covers the webinar topic on composite endpoints in rare diseases and includes participants' response to a questionnaire on this topic.

CONCLUSIONS: Generalized pairwise comparisons is a promising statistical methodology for evaluating any type of composite endpoints in rare disease trials and may allow a better evaluation of therapy efficacy including patients reported outcomes in addition to outcomes related to the diseases signs and symptoms.

PMID:37658423 | PMC:PMC10474650 | DOI:10.1186/s13023-023-02819-x

JAMA Netw Open. 2023 Sep 5;6(9):e2331141. doi: 10.1001/jamanetworkopen.2023.31141.

NO ABSTRACT

PMID:37656463 | DOI:10.1001/jamanetworkopen.2023.31141

J Neurooncol. 2023 Sep;164(2):397-404. doi: 10.1007/s11060-023-04437-w. Epub 2023 Aug 31.

ABSTRACT

OBJECTIVE: Primary intracranial angiosarcomas (PIAs) are exceedingly uncommon, with the literature predominantly comprising case reports. The clinical characteristics and prognosis of this condition remain elusive. Our objective is to describe the clinical characteristics and surgical prognosis of this rare disease while offering insights into the most effective contemporary treatment strategy.

METHODS: The authors of this article incorporated a cohort of 28 cases of PIAs, consisting of 3 from our institution and 25 from previously documented literature sources. Subsequently, we conducted both Cox univariate and multivariate analyses to assess the potential risk factors influencing overall survival (OS).

RESULTS: The cohort include 19 males and 9 females with a mean age of 39.6 ± 23.5 years (range: 0.03-73 years). Radiologically, 24 cases were located at supratentorial area, while only 4 cases were located at infratentorial area. 17 cases underwent gross total resection (GTR), and 11 cases underwent Non-GTR. Postoperative radiotherapy was administered to 17 cases, and postoperative chemotherapy was administered to 6 cases. After a mean follow-up time of 21.5 ± 26.4 months, 19 (67.9%) patients died. The 1-year, 2-year, 5-year OS is 55.3%, 50.7% and 24.6%, respectively. Univariate and multivariate Cox regression analysis showed that Non-GTR was the sole factor predicting a shorter OS (p = 0.004).

CONCLUSION: In this study, we found that PIAs have a higher incidence in males than in females, and most cases show evidence of old hemorrhage on preoperative MRI. Through our statistical analysis, GTR plays a crucial role in for treating this rare disease. Further clinical data are needed to validate our conclusions.

PMID:37650954 | DOI:10.1007/s11060-023-04437-w

Dig Dis Sci. 2023 Oct;68(10):3857-3871. doi: 10.1007/s10620-023-08066-1. Epub 2023 Aug 31.

ABSTRACT

Visceral myopathy is a rare, life-threatening disease linked to identified genetic mutations in 60% of cases. Mostly due to the dearth of knowledge regarding its pathogenesis, effective treatments are lacking. The disease is most commonly diagnosed in children with recurrent or persistent disabling episodes of functional intestinal obstruction, which can be life threatening, often requiring long-term parenteral or specialized enteral nutritional support. Although these interventions are undisputedly life-saving as they allow affected individuals to avoid malnutrition and related complications, they also seriously compromise their quality of life and can carry the risk of sepsis and thrombosis. Animal models for visceral myopathy, which could be crucial for advancing the scientific knowledge of this condition, are scarce. Clearly, a collaborative network is needed to develop research plans to clarify genotype-phenotype correlations and unravel molecular mechanisms to provide targeted therapeutic strategies. This paper represents a summary report of the first 'European Forum on Visceral Myopathy'. This forum was attended by an international interdisciplinary working group that met to better understand visceral myopathy and foster interaction among scientists actively involved in the field and clinicians who specialize in care of people with visceral myopathy.

PMID:37650948 | PMC:PMC10517037 | DOI:10.1007/s10620-023-08066-1

Orphanet J Rare Dis. 2023 Aug 31;18(1):259. doi: 10.1186/s13023-023-02881-5.

ABSTRACT

BACKGROUND: Rare diseases affect a small number of people compared to prevalent diseases. The vast majority of these diseases are of genetic origin, have no cure, are chronic and can lead to death. Although the right to access medicines is included in the constitutionally guaranteed right to health in Brazil, problems in the supply of medicines for rare diseases are reported in the country. This study aimed to describe and analyse the initiatives to promote access to medicines for treating rare diseases in the Unified Health System, Brazil, after the publication of the Brazilian Policy on the Comprehensive Care of People with Rare Diseases. Based on the model published by the WHO Regional Office for Europe, which described access to medicines in prelaunch, perilaunch and postlaunch policies, the initiatives referring to each category were summarized based on documentary research searched in online databases from January 2014 to December 2020.

RESULTS: Different actions and policy interventions were identified, which went through the expansion of resources for research and development, health regulations, incorporation of new drugs, review and publication of clinical guidelines, and expansion of the network of care facilities by the Ministry of Health. On the other hand, aspects related to care policies, pricing methods, technological development, and development of pharmaceutical service processes were not implemented.

CONCLUSIONS: Although it is impossible to determine the explicit motivation of such actions concerning the Policy, its publication certainly was a landmark in Brazilian society, allowing greater recognition of the needs of rare disease patients and the specificities of treatment'. However, this study suggests that the steps that make up the life cycle of medicines are not linked, lacking articulation and integration of the care network, and consequently, there is no evidence that rare disease policy publication has generated a broad impact on the promotion of access to medicines to treat rare diseases in Brazil.

PMID:37653461 | PMC:PMC10472611 | DOI:10.1186/s13023-023-02881-5

Pediatr Rheumatol Online J. 2023 Aug 29;21(1):92. doi: 10.1186/s12969-023-00856-1.

ABSTRACT

Fibrodysplasia ossificans progressive (FOP) is an ultra-rare genetic disorder that is caused by a mutation in the ACVR1 gene and provokes severe heterotopic ossification. Since flares of the disease are associated with inflammation, it is assumed that JAK inhibitors can control active FOP due to blocking multiple signaling pathways.

PMID:37644581 | PMC:PMC10464034 | DOI:10.1186/s12969-023-00856-1

Orphanet J Rare Dis. 2023 Aug 29;18(1):253. doi: 10.1186/s13023-023-02841-z.

ABSTRACT

The growing number of disease-specific patient registries for rare diseases has highlighted the need for registry interoperability and data linkage, leading to large-scale rare disease data integration projects using Semantic Web based solutions. These technologies may be difficult to grasp for rare disease experts, leading to limited involvement by domain expertise in the data integration process. Here, we propose a data integration framework starting from the perspective of the clinical researcher, allowing for purposeful rare disease registry integration driven by clinical research questions.

PMID:37644439 | DOI:10.1186/s13023-023-02841-z

BMC Neurol. 2023 Aug 29;23(1):312. doi: 10.1186/s12883-023-03360-x.

ABSTRACT

BACKGROUND: The standard of diagnosing primary lateral sclerosis, the Pringle criteria, requires three years of purely upper motor neuron symptom presentation before confirming diagnosis. This classic standard has been questioned on occasion due to its restrictive range of both time period and symptomatic exhibition.

CASE PRESENTATION: This case report will review a 57-year-old Caucasian female who presented with pyramidal and extrapyramidal features suggestive of the exceedingly rare disease primary lateral sclerosis plus parkinsonism. We will describe the mixture of upper motor neuron signs and striking parkinsonian symptoms experienced by the patient, as well as the full diagnostic workup leading to her preliminary diagnosis. The details of this case will then be utilized to explore the diagnostic criteria of primary lateral sclerosis, as well as to work through the differential of conditions resembling Parkinson's disease.

CONCLUSIONS: The current criteria to diagnose primary lateral sclerosis may be excluding patients with the disease and is an ongoing area of investigation. A thorough differential including other neurodegenerative conditions is necessary to consider and requires long-term follow-up.

PMID:37644413 | DOI:10.1186/s12883-023-03360-x

Minerva Gastroenterol (Torino). 2023 Sep;69(3):365-373. doi: 10.23736/S2724-5985.21.03002-3.

ABSTRACT

BACKGROUND: The association between sleep disorders and gastroesophageal reflux disease (GERD) has been the subject of several studies; however, quality of sleep has been under investigated in adult patients with eosinophilic esophagitis (EoE) and achalasia (Ach). This study aims to evaluate the prevalence of sleep disturbances in patients with EoE and Ach compared to GERD patients and their associations with esophageal symptoms.

METHODS: Thirty Ach patients and 20 EoE patients were consecutively enrolled and compared to a control group of 46 GERD patients. All patients underwent a standardized questionnaire investigating the intensity-frequency scores (from 0 to 6) of esophageal symptoms, Pittsburgh Sleep Quality Index (PSQI) questionnaire to assess sleep quality, a SF-36 survey to investigate health-related quality of life (both physical (PCS) and mental (MCS) component scales), Beck Depression Inventory-II (BDI-II) and State Trait Anxiety Inventory (STAI) to assess the presence of depression and anxiety.

RESULTS: The prevalence of sleep disturbances was 66.7% in Ach, 50% in EoE, and 60% in GERD patients (P=0.5). PCS and MCS significantly correlated with depression and anxiety levels. Ach patients showed significantly higher intensity-frequency scores of dysphagia for solids (Scheffè P<0.001) and liquids (Scheffè P<0.001) than EoE and GERD patients. No differences were found in the intensity-frequency scores of the esophageal symptoms among the three groups. There was a significant association between worst quality of sleep and higher intensity-frequency scores of regurgitation.

CONCLUSIONS: Sleep disturbances are common with Ach and EoE, similar to GERD patients. Moreover, there is a significant association between regurgitation, a typical GERD symptom, and poor quality of sleep, independent from diagnosis.

PMID:37642600 | DOI:10.23736/S2724-5985.21.03002-3

Nat Neurosci. 2023 Aug 29. doi: 10.1038/s41593-023-01437-x. Online ahead of print.

NO ABSTRACT

PMID:37644260 | DOI:10.1038/s41593-023-01437-x

ACS Chem Neurosci. 2023 Sep 20;14(18):3528-3539. doi: 10.1021/acschemneuro.3c00437. Epub 2023 Aug 28.

ABSTRACT

Primary supranuclear palsy (PSP) is a rare neurodegenerative disease that perturbs body movement, eye movement, and walking balance. Similar to Alzheimer's disease (AD), the abnormal aggregation of tau fibrils in the central neuronal and glial cells is a major hallmark of PSP disease. In this study, we use multiple approaches, including docking, molecular dynamics, and metadynamics simulations, to investigate the binding mechanism of 10 first- and second-generations of PET tracers for PSP tau and compare their binding in cortical basal degeneration (CBD) and AD tauopathies. Structure-activity relationships, binding preferences, the nature of ligand binding in terms of basic intermolecular interactions, the role of polar/charged residues, induced-fit mechanisms, grove closures, and folding patterns for the binding of these tracers in PSP, CBD, and AD tau fibrils are evaluated and discussed in detail in order to build a holistic picture of what is essential for the binding and also to rank the potency of the different tracers. For example, we found that the same tracer shows different binding preferences for the surface sites of tau fibrils that are intrinsically distinct in the folding patterns. Results from the metadynamics simulations predict that PMPBB3 and PBB3 exhibit the strongest binding free energies onto the Q276[I277]I278, Q351[S352]K353, and N368[K369]K370 sites of PSP than the other explored tracers, indicating a solid preference for vdW and cation-π interactions. Our results also reproduced known preferences of tracers, namely, that MK6240 binds better to AD tau than CBD tau and PSP tau and that CBD2115, PI2620, and PMPBB3 are 4R tau binders. These findings fill in the well-sought-after knowledge gap in terms of these tracers' potential binding mechanisms and will be important for the design of highly selective novel PET tracers for tauopathies.

PMID:37639522 | DOI:10.1021/acschemneuro.3c00437

Vaccine. 2023 Sep 22;41(41):5940-5945. doi: 10.1016/j.vaccine.2023.08.020. Epub 2023 Aug 25.

ABSTRACT

Atypical hemolytic uremic syndrome is a rare, life-threatening disorder which can be triggered by COVID 19 infection and COVID 19 vaccination then induce multiple organ failure. Our study is the first to evaluate immune responses to COVID-19 vaccination and safety in a cohort of patients in a local single-center study in Taiwan.. Results indicate that vaccines effectively shield aHUS patients from severe COVID-19 complications without significant safety concerns. A double booster dose for the third vaccine is essential for optimal efficacy. Anti-complement therapy did not influence vaccination effectiveness. Transplant aHUS patients had the lowest immune response titers, indicating a need for additional vaccine doses. Compared to healthcare workers, aHUS patients had poor T-cell responses. We noted a superior trend with mixed-type COVID-19 vaccinations in aHUS patients, while fixed-type mRNA demonstrated better results in healthcare workers. Our findings endorse COVID-19 vaccination as a potent strategy to safeguard aHUS patients from severe complications, emphasizing the importance of vigilant monitoring pre- and post-vaccination.

PMID:37635000 | DOI:10.1016/j.vaccine.2023.08.020

Orv Hetil. 2023 Aug 27;164(34):1342-1349. doi: 10.1556/650.2023.32845. Print 2023 Aug 27.

ABSTRACT

INTRODUCTION: Aniridia is a rare congenital panocular disease associated with varying degrees of visual acuity impairment.

OBJECTIVE: To assess the experiences of congenital aniridia patients in Hungary, with visual impairment using a questionnaire developed by the ANIRIDIA-NET.

PATIENTS AND METHOD: Patients completed the Hungarian version of the 20-item ANIRIDIA-NET questionnaire with our assistance. The questionnaire covered demographic data, the most common complaints caused by the disease, the difficulties caused by low vision in different life situations and the frequency of low vision aids used in daily life.

RESULTS: 33 subjects (17 female [51.51%] and 16 male [48.48%]), 16 (48.5%) children and 17 (51.5%) adults completed the questionnaire, with an age of 25.69 ± 17.49 years (5-59 years). Daily photosensitivity was reported by 27 (81.8%), dry eyes by 5 (15.2%), tearing by 4 (12.1%), fluctuating vision by 3 (9.1%), and eye pain by 2 (6.1%) subjects. The majority of respondents said that personal communication with schoolmates (16 [48.5%]) or colleagues at work (11 [33.3%]) never caused difficulties because of their visual impairment. 29 people (87.9%) never needed help with daily routines at home, 24 (72.7%) with getting to school/work and 17 (51.5%) with various activities. 29 people (87.8%) never used low vision aids for communication, 23 (69.7%) for travelling, 20 (60.6%) for participating in social activities, 18 (54.5%) for studying/work.

CONCLUSION: Although aniridia is associated with reduced visual acuity, the majority of people with congenital aniridia, especially in childhood, manage to cope with personal communication and various life situations without difficulty, despite their eye complaints. Low vision aids can be an important aid for them as they grow into adulthood and as they age. Orv Hetil. 2023; 164(34): 1342-1349.

PMID:37634154 | DOI:10.1556/650.2023.32845