Work

Pathologies Observed in the Organ of Vision in Some Genetic Syndromes (clinical Cases)

Year: 2025
Type: article
Abstract: The article presents clinical cases of ocular pathologies that we have encountered in various genetic syndromes. The object of the study were children with various rare genetic syndromes who applied to the Medical Expert Commission of the National Ophthalmology Centre named after Academician Zarifa Aliyeva in 2023. In particular, Fraser, Pierson, Maroteaux-Lamy, Warburg-Micro and Bardet-Biedl syndromes were presented, as well as pathologies that these syndromes caused in the organ of vision. It should be noted that the children were born to firstdegree consanguineous marriages. Key words: consanguineous marriages, Fraser syndrome, Pierson syndrome, Maroteaux-Lamy syndrome, Warburg-Micro syndrome, Bardet-Biedl syndrome
Language: English
Subfield: Genetics
Open Access status: bronze
OpenAlex ID: W4409247823
FWCI:
Cites: 22
Cited by:
Related to: 10