RESUMO
Albinism is a phenotypically and genetically heterogeneous condition characterized by a variable degree of hypopigmentation and by ocular features leading to reduced visual acuity. Whereas numerous genotypic studies have been conducted throughout the world, very little is known about the genotypic spectrum of albinism in Africa and especially in sub-Saharan Western Africa. Here we report the analysis of all known albinism genes in a series a 23 patients originating from Mali. Four were diagnosed with OCA 1 (oculocutaneous albinism type 1), 17 with OCA 2, and two with OCA 4. OCA2 variant NM_000275.3:c.819_822delinsGGTC was most frequently encountered. Four novel variants were identified (two in TYR, two in OCA2). A deep intronic variant was found to alter splicing of the OCA2 RNA by inclusion of a pseudo exon. Of note, the OCA2 exon 7 deletion commonly found in eastern, central, and southern Africa was absent from this series. African patients with OCA 1 and OCA 4 had only been reported twice and once, respectively, in previous publications. This study constitutes the first report of the genotypic spectrum of albinism in a western sub-Saharan country.
RESUMO
Chorioretinian coloboma often raises clinical issues leading sometimes to some confusion. Nevertheless, diagnosis must be as accurate as possible for several reasons: the association of some congenital anomalies of the papilla with other neurologic, endocrine and systemic disorders as well as issues in differential diagnosis between it and other ophthalmic disorders. We report a clinical case of a 6 year old child, the first boy in a family with 2 children, with bilateral papillar coloboma and without other associated malformations. Patient?s history: normal birth and updated immunisation status. His father and his 4-year-old sister underwent ophthalmic examination which was unremakable. However his mother had diverge strabismus in the right eye.