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 ...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.展开更多
文摘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.
