Retinal involvement in two unrelated patients with Myhre syndrome |
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| Authors: | Al Ageeli Essam Mignot Cyril Afenjar Alexandra Whalen Sandra Dorison Nathalie Mayer Michèle Esteva Blandine Dubern Béatrice Momtchilova Marta Le Gargasson Jean-François Bursztyn Joseph Héron Delphine |
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| Affiliation: | 1. Unité Fonctionnelle de Génétique Médicale, Groupe Hospitalier Pitié Salpêtrière, APHP 47-83, boulevard de l''hôpital, 75651 Paris cedex 13, France;2. Centre de Référence Maladies Rares “Déficiences Intellectuelles de Causes Rares”, France;3. Service de Neuropédiatrie, Hôpital Armand Trousseau, APHP, Paris, France;4. Service d''Explorations Fonctionnelles, Hôpital Armand Trousseau, APHP, Paris, France;5. Unité de Nutrition Pédiatrique, Hôpital Armand Trousseau, APHP, Paris, France;6. Service d''Ophtalmologie, Hôpital Armand Trousseau, APHP, Paris, France;g Physiologie et Explorations Fonctionnelles Multidisciplinaires, Hôpital Lariboisière, APHP, Paris, France;h Service d''Ophtalmologie, Hôpital Necker-Enfants Malades, APHP, Paris, France |
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| Abstract: | Myhre syndrome is a very rare condition described thirty years ago and related to mutations in the SMAD4 gene. It has been reported in 19 patients, including 13 males and 6 females before the recent finding of heterozygous mutations in the SMAD4 gene in 19 patients. It is characterized by mental retardation, short stature, muscle hypertrophy, limitation of joints movements, deafness, skeletal anomalies, and facial dysmorphism. Ophthalmological involvement includes hypermetropia and congenital cataract. We report here the new finding of retinal involvement including retinitis pigmentosa and maculopathy in two unrelated patients with Myhre syndrome. The patient with retinitis pigmentosa carried the p.I500T mutation in SMAD4, but no mutation was found in the patient with the maculopathy. |
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| Keywords: | Myhre syndrome Mental retardation Retinitis pigmentosa Macular degeneration |
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