Kavalaraki Alexandra, Paraskevopoulos Konstantinos, Kavalaraki Marianna, Karakosta Christina, Liaskou Maria
Ophthalmology, Penteli General Children's Hospital, Athens, GRC.
Ophthalmology, Athens Naval Hospital, Athens, GRC.
Cureus. 2023 Sep 2;15(9):e44558. doi: 10.7759/cureus.44558. eCollection 2023 Sep.
The purpose of this article is to report a case of bilateral foveal hypoplasia in an eight-year-old girl who presented to the ophthalmology department due to poor vision in both eyes. Clinical examination revealed bilateral nystagmus, decreased vision, as well as iris transillumination. Dilated fundus examination indicated the absence of light reflex around the foveal area and optical coherence tomography (OCT) imaging exhibited the absence of the fovea centralis depression. These findings, in addition to the patient's light-colored hair and skin complexion, raised suspicion for albinism. The patient was referred for genetic testing and the results confirmed the diagnosis of tyrosinase-positive oculocutaneous albinism (OCA2).
本文旨在报告一例8岁女孩双侧中央凹发育不全的病例，该女孩因双眼视力差就诊于眼科。临床检查发现双侧眼球震颤、视力下降以及虹膜透照。散瞳眼底检查显示中央凹区域周围无光反射，光学相干断层扫描（OCT）成像显示中央凹无凹陷。除了患者浅色头发和皮肤肤色外，这些发现增加了对白化病的怀疑。该患者被转诊进行基因检测，结果证实诊断为酪氨酸酶阳性眼皮肤白化病（OCA2）。
