Challenges and Opportunities in the Genetic Analysis of Inherited Retinal Dystrophies in Africa, a Literature Review

Onyango, Oscar; Mureithi, Marianne; Kithinji, Dennis; Jaoko, Walter; Fujinami, Kaoru

doi:10.3390/jpm13020239

Cited by 1 publication

(1 citation statement)

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“…The group of pathologies of the visual organ associated with genetic abnormalities is very diverse. Isolated eye diseases and combined lesions isolated into syndromes are distinguished [1,2,4,9,10,11,12,13,14]. Retinal dystrophy, congenital cataract, glaucoma, corneal dystrophy are the most often diagnosed.…”

Section: Introductionmentioning

confidence: 99%

Organization of Prevention, Early Detection and Treatment of Genetically Determined Ophthalmological Problems in Azerbaijan

Sultanova,

Hasanova,

Agayeva

2023

Act. Probl. of the Modern Med.

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The aim of this research is to present an optimized plan for organizing the prevention, early detection and treatment of genetically determined eye problems. Materials and methods. The study focuses on the process of prevention, detection and treatment of hereditary eye pathology. Specifically, it addresses issues related to the timely detection of genetically determined ophthalmic diseases leading to patient disability. The study included patients of the Acad. Zarifa Aliyeva National Centre for Ophthalmology, Baku. The study employs patient survey, analytical mapping, and statistical processing of the findings obtained. Results. Genetically determined pathology of the eye occurs quite often, this problem is most common in those countries where the percentage of consanguineous marriages is high. In some cases, hereditary pathology causes disability from early childhood. The correct approach to the problem of detecting the presence of abnormalities in early pregnancy, timely diagnosis and treatment in many cases helps to avoid the birth of children with genetic abnormalities and preserve the vision of sick patients. The organization of assistance to this category of population is multi-staged and involves various organizations not related to health care. An important role is played by the level of financial capabilities and the state of medical institutions, as well as the qualifications of the staff. The first stage of assistance to the population is to identify a risk group. At stage 2, a genetic study of the foetus is carried out in mothers included in the risk group. During stage 3, dynamic control is exercised over a newborn child from a risk group. Stage 4 is the organization of medical and surgical care for patients. The creation of a clear system of informing and helping patients with genetic abnormalities will reduce the number of visually impaired people. Conclusion. Thus, it is necessary to create a clear system of medical and preventive care for children with genetic abnormalities. Only the joint work of social services and doctors of different specialties can lead to successful results in providing care to this group of patients.

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