Introduction: A rare genetic disease, albinism is globally characterized by specific deficits of the visual system associated with a variable hypopigmentation phenotype depending on the disruption of melanin productio...Introduction: A rare genetic disease, albinism is globally characterized by specific deficits of the visual system associated with a variable hypopigmentation phenotype depending on the disruption of melanin production [1]. It is linked to a hereditary defect in the biosynthesis of melanin. Disease results in a generalized decrease in the pigmentation of the appendages, skin and eyes [2]. The aim of this study is to determine the different refractive errors and the different macular anomalies during the OCT examination in oculocutaneous albinism at the CHU-IOTA. Patients and Method: We conducted a prospective study in patients over 10 years of age with oculocutaneous or ocular albinism who consulted at the CHU-IOTA between July 1, 2020, and September 30, 2021. Results: Over the period, 105 cases of oculocutaneous albinism were collected out of a total of 42,024 consultations, which corresponds to a frequency of 0.2%. The average age was 26.2 years, (11 years to 48 years). The sex ratio was 1.6. Astigmatism was the most found refractive error in 50.48% of cases, followed by myopia in 29.52% of cases and farsightedness in 20% of cases. The macular thickness between 251 - 350 was the most commonly found in both eyes, i.e. 47.25% on the right and 53.55% on the left. The bulging macula was the most frequent pathology on the OCT at the level of the two eyes, i.e. 41.42% on the right and 50.6% on the left. Conclusion: Following the visual impairments linked to albinism, early optical care and access to OCT are necessary. Thus the accompaniment of a subject with albinism and associations of albinism must be global and meet specific needs, in order to prevent or avoid ocular complications.展开更多
文摘Introduction: A rare genetic disease, albinism is globally characterized by specific deficits of the visual system associated with a variable hypopigmentation phenotype depending on the disruption of melanin production [1]. It is linked to a hereditary defect in the biosynthesis of melanin. Disease results in a generalized decrease in the pigmentation of the appendages, skin and eyes [2]. The aim of this study is to determine the different refractive errors and the different macular anomalies during the OCT examination in oculocutaneous albinism at the CHU-IOTA. Patients and Method: We conducted a prospective study in patients over 10 years of age with oculocutaneous or ocular albinism who consulted at the CHU-IOTA between July 1, 2020, and September 30, 2021. Results: Over the period, 105 cases of oculocutaneous albinism were collected out of a total of 42,024 consultations, which corresponds to a frequency of 0.2%. The average age was 26.2 years, (11 years to 48 years). The sex ratio was 1.6. Astigmatism was the most found refractive error in 50.48% of cases, followed by myopia in 29.52% of cases and farsightedness in 20% of cases. The macular thickness between 251 - 350 was the most commonly found in both eyes, i.e. 47.25% on the right and 53.55% on the left. The bulging macula was the most frequent pathology on the OCT at the level of the two eyes, i.e. 41.42% on the right and 50.6% on the left. Conclusion: Following the visual impairments linked to albinism, early optical care and access to OCT are necessary. Thus the accompaniment of a subject with albinism and associations of albinism must be global and meet specific needs, in order to prevent or avoid ocular complications.
