Bilateral atypical lamellar holes in a patient with oculocutaneous albinism.

OPHTHALMIC GENETICS(2020)

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摘要
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.
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关键词
Albinism,foveal hypoplasia,fovea plana,lamellar holes,optical coherence tomography
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