Publications by authors named "I Drumare-Bouvet"
Management of albinism: French guidelines for diagnosis and care.
J Eur Acad Dermatol Venereol
July 2021
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.
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- The study is focused on improving how we diagnose dominant optic atrophy (DOA), which is the most common inherited eye disease that affects the optic nerve.
- Researchers looked at 22 specific genes in patients with DOA using advanced sequencing technology to find new genetic changes.
- They discovered new genetic variants in two important genes that are involved in the functioning of mitochondria (the energy powerhouses of cells), which help explain why some symptoms of DOA differ from other related diseases.
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.