A rare case of anophthalmia without any family history and antenatal risk factors

Autor: Kreshnike Dedushi, Fjolla Hyseni, Juna Musa, Kristi Saliaj, Valon Vokshi, Ali Guy, Atiq Bhatti, Abdur Rahman, Muhammad Tahir, Loran Rakovica, Masum Rahman, Jeton Shatri
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: Radiology Case Reports, Vol 16, Iss 12, Pp 3772-3775 (2021)
Druh dokumentu: article
ISSN: 1930-0433
DOI: 10.1016/j.radcr.2021.09.001
Popis: Anophthalmia is a rare genetic disorder. It is defined as the absence of one or both eyes in a patient. It can be unilateral or bilateral. Based on the absence of anatomical structures, it is divided into primary, secondary, and degenerative anophthalmia. It occurs in an infant with a diabetic mother or any exposure to teratogens. Most of the patients have a positive family history of anophthalmia or related genetic disorder. Its diagnosis is crucial as there is a similar condition called micro ophthalmia. Sometimes it is difficult to differentiate between severe microphthalmia and anophthalmia. We present a case of a 5-day-old infant diagnosed with bilateral anophthalmia. In the majority of the cases of bilateral anophthalmia the patients usually have a positive family history of antenatal exposure to teratogenic substances. But in our case, no family history or antenatal teratogenic exposure was noted.
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