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Vianney Cortés-González, Mariana Escalante-Castañón, Cristina Villanueva-Mendoza; Blindness and skeletal handicap are the clues for diagnosis of Osteoporosis-pseudoglioma syndrome. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):5989.
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To report a Mexican familial case with Osteoporosis-pseudoglioma syndrome.
Affected patients underwent a complete ocular and systemic examination. In addition B scan echography and x-rays were performed.
The propositus is a 10 years old girl with phthisis bulbi associated to congenital bilateral retinal detachment. She had a history of several spontaneous fractures in clavicle, ankle, femur and tibia. Her younger sister and one brother had a similar ocular phenotype, they were blind; her sister also had some spontaneous fractures. All of them had developmental delay and x-rays revealed generalized osteoporosis with thin cortices. There was consanguinity between parents. The association of multiple fractures and blindness suggested a clinical diagnosis of osteoporosis-pseudoglioma syndrome.
Osteoporosis pseudoglioma syndrome is an autosomal recessive disorder consisting of very low bone mass and congenital or early onset blindness. It is caused by homozygous mutations in LRP5. LRP5 has been found to play a role in the development of retinal vasculature, it is also expressed in osteoblasts and affects bone mass. This familiar case is very typical with blindness and skeletal handicap characteristic of the osteoporosis-pseudoglioma syndrome. Although this condition is rare it is very important to distinctive from others diseases associated with congenital retinal detachment like Norrie disease, familial exudative vitreoretinopathy and others developmental retinal disorders. As far as we know this is the first Mexican case that has been reported.
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