Clinical-Medical Image - International Journal of Clinical & Medical Images (2022) Volume 9, Issue 3
Author(s): VÃƒÂtor Miranda*, Maria Joao Matias, Catarina Aguiar and Claudia Costa Ferreira
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
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 .
Keywords: Albinism; Retina
 Gronskov K, Ek J, & Brondum-Nielsen K (2007) Orphanet journal of rare diseases. Orphanet J Rare Dis 2: 43-51.