Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.
Cornea. 2013 Jan;32(1):91-4. doi: 10.1097/ICO.0b013e318243e474.
To describe the confocal microscopic findings in a patient with hereditary tyrosinemia type I (HT-I) treated with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) who developed corneal crystals.
In this case study, we describe the confocal microscopic findings in a boy, who was diagnosed with HT-I at the age of 4 months. At 16 years of age, he developed painful corneal lesions in both eyes. On slit-lamp examination, whorl-like branching epithelial corneal lesions were found, staining faintly with fluorescein. His NTBC treatment was stopped and reintroduced at a lower dose after 1 month. The lesions clearly regressed, leaving only mild residual epithelial scarring, without fluorescein staining and without pain. Confocal microscopy was performed in the acute painful stage and in the asymptomatic convalescent stage 5 months later.
Confocal microscopy confirmed the presence of slender birefringent spiky crystals in the very superficial corneal epithelium. In the asymptomatic convalescent phase, the crystals clearly persisted on confocal microscopy, although they were barely visible on slit-lamp examination.
This is the first in vivo demonstration by confocal microscopy of corneal crystals present in a patient with proven type I tyrosinemia, under NTBC treatment.
描述接受 2-(2-硝基-4-三氟甲基苯甲酰基）-1,3-环己二酮（NTBC）治疗的 I 型遗传性酪氨酸血症（HT-I）患者出现角膜晶体的共焦显微镜检查结果。
在本病例研究中，我们描述了一名男孩的共焦显微镜检查结果，他在 4 个月大时被诊断出患有 HT-I。16 岁时，他的双眼出现疼痛性角膜病变。在裂隙灯检查下，发现涡旋状分支状上皮角膜病变，荧光素染色呈弱阳性。他的 NTBC 治疗在 1 个月后停止，并以较低剂量重新开始。病变明显消退，仅留下轻微的残留上皮瘢痕，无荧光素染色，无疼痛。在急性疼痛阶段和 5 个月后的无症状恢复期进行了共焦显微镜检查。
共焦显微镜检查证实，非常浅层的角膜上皮中存在细长的双折射刺状晶体。在无症状的恢复期，晶体在共焦显微镜下清晰可见，尽管在裂隙灯检查下几乎看不见。
这是首例通过共焦显微镜对接受 NTBC 治疗的 I 型酪氨酸血症患者的角膜晶体进行的体内证明。
