RESUMEN
Albinism is a worldwide genetic disorder caused by mutations in at least 20 genes, identified to date, that affect melanin production or transport in the skin, hair and eyes. Patients present with variable degrees of diffuse muco-cutaneous and adnexal hypopigmentation, as well as ocular features including nystagmus, misrouting of optic nerves and foveal hypoplasia. Less often, albinism is associated with blood, immunological, pulmonary, digestive and/or neurological anomalies. Clinical and molecular characterizations are essential in preventing potential complications. Disease-causing mutations remain unknown for about 25% of patients with albinism. These guidelines have been developed for the diagnosis and management of syndromic and non-syndromic forms of albinism, based on a systematic review of the scientific literature. These guidelines comprise clinical and molecular characterization, diagnosis, therapeutic approach and management.
Asunto(s)
Albinismo Oculocutáneo , Albinismo , Nistagmo Patológico , Albinismo/genética , Albinismo Oculocutáneo/diagnóstico , Albinismo Oculocutáneo/genética , Albinismo Oculocutáneo/terapia , Humanos , Melaninas , Guías de Práctica Clínica como Asunto , Revisiones Sistemáticas como Asunto , Trastornos de la VisiónRESUMEN
INTRODUCTION: Aicardi syndrome is a severe congenital disorder affecting females and characterized by a triad of symptoms, including infantile spasms, agenesis of the corpus callosum and chorioretinal lacunae. OBSERVATIONS: This retrospective study demonstrates that three out of eight children followed at CHRU of Lille for Aicardi syndrome exhibited unilateral chorioretinal lacunae. For these patients, the condition was diagnosed prior to 6months based on abnormal fundus exam as well as neurological and radiological (MRI) abnormalities. DISCUSSION: These patients with Aicardi syndrome have unilateral ocular abnormalities. Moreover, the differential diagnosis must be considered in the presence of microcephaly, chorioretinal dysplasia and mental retardation. CONCLUSION: Unilateral chorioretinal lacunae do not rule out the diagnosis of Aicardi syndrome in the presence of psychomotor retardation and agenesis of the corpus callosum on magnetic resonance imaging.