Special Issue “Pediatric Eye Disease: Screening, Causes and Treatment”

Chen, Li Jia; Yam, Jason C.; Pang, Calvin C P

doi:10.3390/children10040654

Cited by 2 publications

(2 citation statements)

References 9 publications

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“…Ежегодно молекулярная причина устанавливается еще для 250-300 нозологических форм [5]. Ожидается, что ухудшение зрения будет расти по мере распространения патологий, имеющих компоненты генетической этиологии, поддающиеся диагностике и комплексному изучению [12].…”

Section: Discussionunclassified

Topical issues in pediatric ophthalmogenetics: diversity and prevalence of hereditary eye pathology

Zinchenko,

Marakhonov,

Kutsev

et al. 2023

APPS

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According to the World Health Organization, hereditary eye pathologies (HEP) constitute a significant proportion of ophthalmologic diseases (at least 35% in total and up to 40%in children), resulting in substantial disability (65-70%). However, there is a lack of data on the prevalence and diversity of HEP in the Russian Federation. Therefore, it is crucial to study the prevalence and etiological nature of these diseases using modern genome technologies, in order to identify frequent forms, enable early detection in children, and develop effective therapeutic and preventive measures. Objective: The objective of this study was to estimate the prevalence of HEP in children, both as isolated conditions and as part of hereditary diseases and syndromes, in seven regions of the Russian Federation, while identifying frequently occurring nosological forms. Materials and methods: An epidemiological and clinical genetic study was conducted in 60 districts across the regions of Rostov, Kirov, Republics of Chuvashia, Udmurtia, Bashkortostan, Tatarstan, and Karachay-Cherkessia, encompassing a total population of 2,434,460 individuals, including 480,575 children. The study encompassed the entire population of the selected areas, regardless of age, and followed an original protocol for genetic and epidemiological research established at the Laboratory of Genetic Epidemiology. The methods employed included clinical-genetic, genealogical, clinical-laboratory, and molecular-genetic techniques, such as full-exome sequencing. The prevalence of visual organ diseases was calculated. Results: The results revealed a total of 449 patients with 56 different forms of isolated hereditary eye pathology (IHEP), indicating a prevalence of 1:1070 children. Additionally, 507 pediatric patients were identified with eye involvement as a symptom of 50 hereditary diseases and syndromes (SHEP), resulting in a prevalence of 1:954 children. Overall, hereditary eye lesions affecting various eye structures were identified in 956 pediatric patients, yielding a prevalence of 1:504 children. Frequent nosological forms were identified for both disease groups: 17 in IHEP and 14 in SHEP. Notably, these frequent hereditary eye diseases accounted for more than 80% of all identified patients with hereditary pathology (83.30% and 88.10% for IHEP and SHEP, respectively). Conclusion: This study provides new insights into the epidemiology of hereditary eye pathologies in the Russian Federation and describes frequent diseases within this population. These findings will contribute to improving research and clinical practices, expanding the range of treatable conditions, and informing targeted programs and measures in the field of children’s healthcare.

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Section: Discussionunclassified

Topical issues in pediatric ophthalmogenetics: diversity and prevalence of hereditary eye pathology

Zinchenko,

Marakhonov,

Kutsev

et al. 2023

APPS

View full text Add to dashboard Cite

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“… 4 Moreover, interruptions in regular eye check-ups and treatments posed potential risks for the early detection and management of pediatric eye disorders. 5 Adapting to these new scenarios, pediatric ophthalmology began emphasizing telemedicine, preventive measures, and innovative approaches to safeguard children’s vision during and post-pandemic. 6 Compared to most other specialties, the risk of patient-physician transmission in ophthalmology was more remarkable due to the necessity of close contact during examination and difficulties in using medical equipment with protective gear.…”

Section: Introductionmentioning

confidence: 99%

Impact of Covid-19 on Pediatric Ophthalmology Care: Lessons Learned

Kaur,

Muralikrishnan,

Hussaindeen

et al. 2023

PHMT

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The COVID-19 pandemic came with many new challenges that forced personal and professional lifestyle modifications. Medical facilities were in scarcity against this new unknown enemy and were challenged with the overloaded patient flow, scarcity of healthcare staff, and evolving treatment modalities with a better understanding of the virus each day. Ophthalmology as a “branch of medicine” suffered challenges initially because of a lack of guidelines for patient management, close working distance during routine examinations, and halt of major surgeries, including cataracts. Pediatric ophthalmology had major implications, as reduced outpatient visits would mean deeper amblyopia, and changed lifestyles, including online classes and home refinement, predisposing children to myopia, digital eye strain, and worsening of strabismus. COVID-19 also unveiled underlying accommodation and convergence anomalies that predisposed pediatric and adolescent patients to an increased prevalence of headache and acute onset esotropia. Teleophthalmology and other innovative solutions, including the use of prism glasses, safe slit-lamp shields, alternative ways of school screening with the use of photoscreeners, performing retinoscopy only when needed, and using autorefractors were among the few guidelines or modifications adopted which helped in the efficient and safe management of pediatric patients. Many pediatric ophthalmologists also suffered in terms of financial constraints due to loss of salary or even closure of private practices. School screening and retinopathy of prematurity screening suffered a great setback and costed a lot of vision years, data of which remains under-reported. Important implications and learnings from the pandemic to mitigate future similar situations include using teleophthalmology and virtual platforms for the triage of patients, managing non-emergency conditions without physical consultations, and utilizing home-based vision assessment techniques customized for different age groups. Though this pandemic had a lot of negative implications, the innovations, modifications, and other important learnings helped pediatric ophthalmologists in navigating safely.

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Special Issue “Pediatric Eye Disease: Screening, Causes and Treatment”

Abstract: Clinical manifestations and courses of eye diseases in children are profoundly variable, from minor irritations, pain, infections, inflammations, ocular misalignment, refractive errors and visual impairment, to permanent blindness [...]

Cited by 2 publications

References 9 publications

Topical issues in pediatric ophthalmogenetics: diversity and prevalence of hereditary eye pathology

Topical issues in pediatric ophthalmogenetics: diversity and prevalence of hereditary eye pathology

Impact of Covid-19 on Pediatric Ophthalmology Care: Lessons Learned

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