PDF(Pubmed)
Abstract：
Patients with mutations in the α/β-hydrolase (ABHD) 12 gene develop ocular complications including cataracts and retinitis pigmentosa (RP), as part of the polyneuropathy, hearing loss, ataxia, RP, and cataract (PHARC) syndrome. A chart review on a patient with a heterozygous mutation on the ABHD12 gene underwent a comprehensive ophthalmic evaluation. Visual acuity was 0 and 1.3 (logMAR) on the right eye (OD) and left eye (OS), respectively. There was pseudophakia in the OS. Fundus examination in OD was normal and pale optic nerve, attenuated vessels, cystoid macular edema, and mid-peripheral bony spicules were found in OS. Visual field test showed a ring scotoma in the OS. Macular optical coherence tomography (OCT) and fundus autofluorescence were compatible with cystoid macular edema of the OS. The electroretinogram (ERG) of left eye was flat. Patient\'s systemic findings included: polyneuropathy and hearing loss. Unilateral presentation of cataract and RP in a patient with a heterozygous pathogenic mutation on the ABHD12 gene is rare. This could be due to mosaicism. Retinal follow-up is warranted in this patient since manifestations may occur later in the contralateral eye. A heterozygous pathogenic mutation on the ABHD12 gene may lead to partial ocular and systemic manifestations of the PHARC syndrome.
摘要：
在α/β-水解酶（ABHD）12基因突变的患者发生眼部并发症，包括白内障和视网膜色素变性（RP），作为多发性神经病的一部分，听力损失,共济失调,RP,和白内障（PHARC）综合征。对ABHD12基因杂合突变的患者进行了全面的眼科评估。右眼（OD）和左眼（OS）的视力分别为0和1.3（logMAR），分别。操作系统中有伪晶状体。眼底检查OD正常，视神经苍白，衰减的血管，黄斑囊样水肿，在OS中发现了中周骨针。视野测试表明OS中存在环形暗点。黄斑光学相干断层扫描（OCT）和眼底自发荧光与OS的囊样黄斑水肿兼容。左眼视网膜电图(ERG)呈平面。患者的全身检查结果包括：多发性神经病和听力损失。在ABHD12基因上具有杂合致病突变的患者中，白内障和RP的单侧表现很少见。这可能是由于马赛克。该患者需要进行视网膜随访，因为对侧眼可能会在后期出现表现。ABHD12基因上的杂合致病突变可能导致PHARC综合征的部分眼部和全身表现。
