关键词: Albinism fovea plana foveal hypoplasia lamellar holes optical coherence tomography

Mesh : Albinism, Oculocutaneous / physiopathology Child Female Fovea Centralis / pathology Humans Prognosis Retinal Perforations / pathology

来  源:   DOI:10.1080/13816810.2020.1765397   PDF(Sci-hub)

Abstract:
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.
Case report.
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.
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.
摘要:
白化病可以表现出广泛的眼科发现和可变的表现力。随着光学相干层析成像的使用,在这种情况下,人们越来越意识到黄斑发现的变异性。
病例报告。
我们介绍了一例眼皮肤白化病,双侧非典型板层孔可能代表了这种情况下视网膜异常的一部分。
光学相干层析成像有助于白化病的诊断。可变的表现力导致白化病的一系列黄斑病变,其中可能包括该患者所描述的非典型板层孔。
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