Ophthalmic Genetics ( IF 1.2 ) Pub Date : 2020-06-16 , DOI: 10.1080/13816810.2020.1765397 Michelle M Falcone 1 , Nimesh A Patel 1 , Nicolas A Yannuzzi 1 , Dhariana Acon 1 , Catherin I Negron 1 , Craig McKeown 1 , Audina M Berrocal 1
Background
Albinism can present with a wide range of ophthalmic findings and variable expressivity. With the use of optical coherence tomography, there has been increasing awareness of the variability of macular findings in this condition.
Materials and Methods
Case report
Results
We present a case of oculocutaneous albinism with bilateral atypical lamellar holes which may represent part of the spectrum of retinal abnormalities in this condition.
Conclusion
Optical coherence tomography can be helpful in diagnosing albinism. Variable expressivity leads to a range of macular pathology in albinism which may include atypical lamellar holes as described in this patient.
中文翻译:
眼皮肤白化病患者的双侧非典型板层孔。
背景
白化病可以表现出广泛的眼科发现和可变的表现力。随着光学相干断层扫描技术的使用,人们越来越认识到在这种情况下黄斑病变的变异性。
材料和方法
案例报告
结果
我们提出一例伴有双侧非典型板层孔的眼白化病,这可能代表这种情况下视网膜异常频谱的一部分。
结论
光学相干断层扫描可以帮助诊断白化病。可变表达导致白化病的一系列黄斑病变,其中可能包括该患者所述的非典型层状孔。