Abstract
Introduction: Albinism is a rare hereditary genetic disorder, characterized by melanogenesis disorders associated to varying degrees of cutaneous, atrial and visual disorders. In Libreville, no data on the subject is available. Purpose: To describe the ocular manifestations found in albinos living in Libreville. Patients and methods: This was a cross-sectional and descriptive study that took place in Libreville during a year from and that concerned 43 albinos. The inclusion criteria were any albino with oculocutaneous albinism present in Libreville who has agreed to participate in the investigation. The variables studied were age, sex, visual acuity, ametropia, iris color, iris transillumination, strabismus, nystagmus, torticollis, amblyopia, optic disc, photophobia, foveal hypoplasia and retinal hypopigmentation. Data was collected and analyzed using Epi infoTM 7.2.0.1 CDC and IBM® SPSS® V21 Statistic software. Results: The mean age was 21.2 ± 17 years with a (F/M) ratio of 0.53. Visual acuity by far without correction (AVLCSC) < 3/10 was found in 88.4% of cases. Astigmatism, two-tone iris and torticollis were found respectively in 52.7%, 51% and 26% of cases. Retinal hypopigmentation and foveal hypoplasia were noted in 65.1% and 86% of cases. Divergent strabismus was noted in 71.4% and small and pale papilla in 95.1% of cases. Photophobia, iris transillumination, nystagmus and amblyopia were noted in 100% of cases. Conclusion: The ocular manifestations encountered in our series are similar to those described in literatures.
Highlights
Albinism is a rare hereditary genetic disorder, characterized by melanogenesis disorders associated to varying degrees of cutaneous, atrial and visual disorders
The type of Oculocutaneous albinism type 3 (OCA3) has mainly been described in Black-African and African-American with two cases reported among Caucasians
Optic disc or papilla was small and pale in 81.3% of cases with retinal hypopigmentation found in 65.1% and foveal hypoplasia in 86% of cases
Summary
Albinism is a rare hereditary genetic disorder, characterized by melanogenesis disorders associated to varying degrees of cutaneous, atrial and visual disorders. Albinism is a universal condition, the most common hereditary generalized hypopigmentation whose global incidence in all forms varies from 1/17,000 to 1/20,000 births [2] [3] This is a clinically and genetically heterogeneous pathology with three major forms including Oculocutaneous albinism, Ocular albinism and Syndromic albinism. Despite the explanations of science, albinism remains an anomaly source of fear and anxiety in Africa where albinos, victims of many prejudices are discriminated against, marginalized, forced to drop out of school and suffer physical and moral violence or even murdered for their organs, which are sold at high prices As a result, they are confronted with a whole range of problems that constitute a hindrance to their personal growth, their school attendance, their social and professional integration and their medical care.
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