Natalia Pastora

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BACKGROUND Alström syndrome is a rare genetic ciliopathy caused by a mutation in the ALMS1 gene. The syndrome is characterized by cone-rod dystrophy, dilated myocardiopathy, childhood obesity and sensorineural hearing loss. To date, cystoid macular edema has not been reported. METHODS A female affected by Alström syndrome developed bilateral cystoid(More)
We report a case of an immunocompetent woman with atypical marginal keratitis. She presented with recurrent episodes of multiples microabscess distributed in a triangular pattern associated with stromal oedema and anterior chamber uveitis, affecting both eyes, but not simultaneously. The episodes responded to steroid drops, corneal inflammation was(More)
OBJECTIVES The aim of this study is to report a case of conjunctival lymphangiectasia simulating a pediatric pterygium. METHODS A 10-year-old girl with Turner syndrome and familial history of pterygia presented because of a conjunctival growing lesion clinically consistent with pterygium in her left eye. Visual acuity (VA) was 20/20 in the right eye and(More)
CASE REPORT A patient with a left optic nerve coloboma with late development (at 15 years of age) of vitreoretinal fibrovascular proliferation and tractional retinal detachment (TRD). Sectorial retinal photocoagulation was performed with regression of the proliferative tissue and exudation. DISCUSSION Congenital optic nerve anomalies may be associated(More)
Results. As shown in the Table, by comparison with the GG genotype, the TT genotype was associated with very high risk for all types of ARM, with increasing odds ratios according to the severity of ARM (from 4.60 for early ARM1 to 23.63 and 16.15 for late atrophic and neovascular ARM, respectively). By contrast, associations of the different types of ARM(More)
CASE REPORT A 4 year-old girl was referred to our hospital after have suffered a severe accident. The patient was diagnosed with complete third nerve palsy in her right eye and Purtscher retinopathy in her left eye. DISCUSSION Purtscher retinopathy is a rare condition. The diagnosis is made on clinical ground and its treatment is not well defined although(More)
BACKGROUND Microcephaly-lymphedema-chorioretinal dysplasia (OMIM 152950) is a rare malformative inherited disorder that can be associated with other systemic features. Other ocular and brain anomalies rather than microcephaly and chorioretinal dysplasia have been inconstantly reported in this syndrome. METHODS We present a case of(More)
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