Abstract：
We report a 23-year-old female patient with ophthalmic features of albinism, including refractive errors, nystagmus, depigmented fundus, and foveal hypoplasia. She presented for a rhegmatogenous retinal detachment, which was surgically reattached with no complications. Further genetic testing revealed the presence of a heterozygous pathogenic oculocutaneous albinism OCA2 gene mutation, conferring carrier status. To the best of our knowledge, this is the first reported case of typical ocular phenotype of albinism, specifically nystagmus, in a patient who is carrier for oculo-cutaneous albinism. Further research is required to expand the genotype-phenotype relationship in carriers of oculocutaneous albinism. [Ophthalmic Surg Lasers Imaging Retina 2024;55:349-353.].
摘要：
我们报告了一名23岁的女性患者，患有白化病的眼科特征，包括屈光不正,眼球震颤,褪色的眼底，和中央凹发育不全。她提出了孔源性视网膜脱离，手术重新连接，没有并发症。进一步的基因检测显示存在杂合子致病性眼皮肤白化病OCA2基因突变，授予承运人身份。据我们所知,这是第一例白化病典型眼部表型的报道，特别是眼球震颤,患有眼皮白化病的患者。需要进一步的研究来扩大眼皮肤白化病携带者的基因型-表型关系。[眼科手术激光成像视网膜2024；55：349-353。].
