Khan Arif O, AlBakri Amani
Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
J AAPOS. 2018 Jun;22(3):229-231. doi: 10.1016/j.jaapos.2017.10.012. Epub 2018 Feb 3.
Biallelic mutations in the nuclear gene LONP1 (LON peptidase 1, mitochondrial) cause CODAS syndrome (cerebral, ocular, dental, auricular, and skeletal anomalies), a systemic disease that can include infantile cataract. However, we have found that biallelic mutations in the gene can also underlie infantile cataract in the setting of minimal or no apparent extraocular findings. This report highlights our clinical experience with children referred for the management of infantile cataract who were found to harbor biallelic LONP1 gene mutations. Ptosis, external ear abnormalities, and joint abnormalities were accompanying findings and thus should raise suspicion for mutations in the gene when one or more are present in children with infantile cataract.
核基因LONP1（LON肽酶1，线粒体）的双等位基因突变会导致CODAS综合征（脑、眼、牙、耳和骨骼异常），这是一种可能包括婴儿白内障的全身性疾病。然而，我们发现该基因的双等位基因突变也可能是婴儿白内障的病因，且眼部外表现极少或无明显表现。本报告重点介绍了我们对因婴儿白内障治疗前来就诊的儿童的临床经验，这些儿童被发现存在LONP1基因双等位基因突变。上睑下垂、外耳异常和关节异常是伴随症状，因此，当患有婴儿白内障的儿童出现一种或多种上述症状时，应怀疑该基因发生了突变。
