El albinismo oculocutáneo es un trastorno genético que condiciona no sólo una retinopatía, sino otras alteraciones en el desarrollo embriológico de la via visual, y por lo tanto del neurodesarrollo. La principal consecuencia es una pérdida de la estereopsia.
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Existen otros trastornos del neurodesarrollo que también comparten características con el albinismo oculocutáneo, como el síndrome de Prader-Willi, en el que en ocasiones, se afecta el gen OCA2 por microdelección, por lo que además de presentar hipopigmentación, tienen alteraciones del enrutamiento de los axones a través del nervio óptico.
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1.
Spritz RA, Bailin T, Nicholls RD, Lee ST, Park SK, Mascari MJ, et al. Hypopigmentation in the Prader-Willi Syndrome Correlates With P Gene Deletion But Not With Haplotype of the Hemizygous P Allele. Am J Med Genet [Internet]. 1997 Jul 11 [cited 2023 Feb 26];71(1):57–62. Available from:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6067925/
Este tipo de trastornos de la via visual pueden ponerse de manifiesto neurofisiológicamente, a través de la realización de PEV con estimulación diferencial de cada ojo por separado, y registro dicotómico en ambos lóbulos occipitales.
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Creel DJ, Bendel CM, Wiesner GL, Wirtschafter JD, Arthur DC, King RA. Abnormalities of the central visual pathways in Prader-Willi syndrome associated with hypopigmentation. N Engl J Med. 1986 Jun 19;314(25):1606–9.
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