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International Journal of Clinical & Medical Images

2376-0249

Clinical-Medical Image - International Journal of Clinical & Medical Images (2022) Volume 9, Issue 3

Albinism a Paradigmatic Image

Albinism a Paradigmatic Image

Author(s): Vítor Miranda*, Maria João Matias, Catarina Aguiar and Cláudia Costa Ferreira

DOI: 10.4172/2376-0249.1000816

Received: 21 March 2022, Manuscript No. ijcmi-22-61261; Editor assigned: 23 March 2022, 2022, PreQC No. P-61261; Reviewed: 25 March 2022, QC No. Q-61261; Revised: 27 March 2022, Manuscript No. R-61261; Published: 30 March 2022, DOI: 10.4172/2376-0249.1000816

Clinical-Medical Image

A 4 years old girl referenced to the Paediatrics Ophthalmology department due to low vision and suspected albinism due to hair and skin hypopigmentation. Personal and family history was otherwise unremarkable. Visual acuity was 5/10 in both eyes. Ocular motility and alignment were normal. Biomicroscopy was unremarkable without retro illumination defects. Fundus and OCT structural imaging (Figure 1) showed marked fundus hypopigmentation and absence of foveal depression, compatible with oculocutaneous albinism. Electrophysiology and genetic study later confirmed the diagnosis [1].

Keywords: Albinism; Retina

References
  1. Gronskov K, Ek J, & Brondum-Nielsen K (2007) Orphanet journal of rare diseases. Orphanet J Rare Dis 2: 43-51.
  2. Google Scholar, Crossref, Indexed at

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Citations : 226

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