Razzak Amine, Ait Ammar Hala, Bouazza Mohamed, Elbelhadji Mohamed
Department of Ophthalmology, Cheikh Khalifa International University Hospital, Mohammed VI University of Sciences and Health, Casablanca, MAR.
Research Unit, Mohammed VI Center for Research and Innovation, Rabat, MAR.
Cureus. 2024 Oct 7;16(10):e70992. doi: 10.7759/cureus.70992. eCollection 2024 Oct.
Infantile cystinosis is a rare systemic hereditary disorder characterized by abnormal cystine accumulation in cells, leading to various complications. Ophthalmological involvement is one of the major complications of this condition and significantly impacts visual prognosis. We report the case of a five-year-old male patient who was followed up for growth retardation, rickets, and refractory metabolic acidosis and was referred to ophthalmology for severe photophobia. Ophthalmological examination revealed a corrected visual acuity of 4/10 in the right eye and 8/10 in the left eye. Biomicroscopic examination showed birefringent corneal and conjunctival deposits. The diagnosis of infantile cystinosis was confirmed. Cystinosis is a lysosomal, autosomal recessive disease caused by intralysosomal cystine accumulation, manifesting ophthalmologically as cystine keratopathy and, less commonly, cystine retinopathy, which can threaten visual prognosis. The specific treatment for this condition is cysteamine, but management is multidisciplinary and must be initiated early to prevent severe complications.
婴儿胱氨酸病是一种罕见的全身性遗传性疾病，其特征是细胞内胱氨酸异常蓄积，从而导致各种并发症。眼科受累是该病的主要并发症之一，对视力预后有显著影响。我们报告一例5岁男性患者，该患者因生长发育迟缓、佝偻病和难治性代谢性酸中毒接受随访，并因严重畏光转诊至眼科。眼科检查显示右眼矫正视力为4/10，左眼为8/10。生物显微镜检查发现角膜和结膜有双折射沉积物。婴儿胱氨酸病的诊断得以确诊。胱氨酸病是一种溶酶体常染色体隐性疾病，由溶酶体内胱氨酸蓄积引起，眼科表现为胱氨酸角膜病变，较少见的是胱氨酸视网膜病变，可威胁视力预后。该病的特效治疗药物是半胱胺，但治疗是多学科的，必须尽早开始以预防严重并发症。
