Bianca-Mariana TIRZIMAN1, Ioana VATA2, Alin CIOBICA1,2,3,4, Ioannis MAVROUDIS5,6
Abstract. This paper explores ocular albinism, a rare genetic disorder caused by mutations in genes responsible for melanin production, primarily affecting the visual system. It describes the different types of ocular albinism, focusing on clinical features such as photophobia, nystagmus, and reduced visual acuity. Two real-life cases are presented to illustrate the condition’s impact on patients’ lives and the importance of accurate diagnosis. A comparison is also made between the manifestations of ocular albinism in humans and animal models, highlighting biological and genetic differences. Diagnostic methods include genetic testing, clinical evaluation, and ophthalmic imaging. Patient management emphasizes personalized treatments, visual aids, and psychosocial support. Early diagnosis and multidisciplinary interventions are essential for improving the quality of life of individuals with ocular albinism.
Keywords: ocular albinism, genetic mutations, diagnosis, management, clinical cases, personalized approaches
DOI 10.56082/annalsarscibio.2025.1.215
1Faculty of Biology, Alexandru Ioan Cuza University of Iasi, Bd. Carol I no. 20A, 700505 Iasi, Romania
2Ioan Haulica” Institute, Apollonia University, Pacurari Street 11, 700511 Iasi, Romania
3Academy of Romanian Scientists
4“Olga Necrasov” Institute, Dept. of Biomedical Research, Romanian Academy, Bd. Carol I, no. 8, 700506 Iasi, Romania
5Department of Neuroscience, Leeds Teaching Hospitals, NHS Trust, Leeds, UK
6Third Department of Neurology, Aristotle University of Thessaloniki, Greece
*Corresponding author: Ioana Vata: ioanamacovei@yahoo.com
PUBLISHED in Annals Academy of Romanian Scientists Series on Biological Sciences, Volume 14 no 1, 2025