Dedushi Kreshnike, Hyseni Fjolla, Musa Juna, Saliaj Kristi, Vokshi Valon, Guy Ali, Bhatti Atiq, Rahman Abdur, Tahir Muhammad, Rakovica Loran, Rahman Masum, Shatri Jeton
Clinical of Radiology, University Clinical Center of Kosovo. Faculty of Medicine, Department of Radiology, University of Prishtina, Kosovo.
Research Fellow, NYU Langone Health, New York, USA.
Radiol Case Rep. 2021 Oct 2;16(12):3772-3775. doi: 10.1016/j.radcr.2021.09.001. eCollection 2021 Dec.
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.
无眼畸形是一种罕见的遗传性疾病。它被定义为患者一只或两只眼睛缺失。可为单侧或双侧。根据解剖结构的缺失情况，可分为原发性、继发性和退行性无眼畸形。它发生于患有糖尿病的母亲所生的婴儿或任何接触致畸物的婴儿。大多数患者有家族性无眼畸形或相关遗传疾病的阳性家族史。其诊断至关重要，因为存在一种类似的情况称为小眼畸形。有时很难区分严重的小眼畸形和无眼畸形。我们报告一例5天大的婴儿被诊断为双侧无眼畸形。在大多数双侧无眼畸形病例中，患者通常有产前接触致畸物质的阳性家族史。但在我们的病例中，未发现家族史或产前致畸物接触史。
