Bilateral edematous optic disc swelling from papilledema is caused by elevated intracranial pressure (ICP). Idiopathic intracranial hypertension (IIH), a clinical syndrome with elevated ICP of unclear etiology, is a frequent cause of this condition. IIH typically affects obese middle-aged females.
View Article and Find Full Text PDFTo evaluate subfoveal choroidal thickness (SFCT) in eyes with diabetic macular edema (DME) using spectral domain OCT (SD-OCT). Ninety eyes were divided into three equal groups: group A, non-proliferative diabetic retinopathy (NPDR) with no DME; group B, NPDR having DME; and group C, non-diabetic patients. The central subfield retinal thickness (CSRT) and SFCT were measured using spectral domain OCT.
View Article and Find Full Text PDFWe describe five patients from three different families with microcephalic osteodysplastic primordial dwarfism type I (MOPD I), which was molecularly confirmed by homozygosity for the g.51G >A and g.55G >A mutations in RNU4ATAC, respectively.
View Article and Find Full Text PDFThe designation microcephalic osteodysplastic primordial dwarfism (MOPD) refers to a group of autosomal recessive disorders, comprising microcephaly, growth retardation, and a skeletal dysplasia. The different types of MOPD have been delineated on the basis of clinical, radiological, and genetic criteria. We describe two brothers, born to healthy, consanguineous parents, with intrauterine and postnatal growth retardation, microcephaly with abnormal gyral pattern and partial agenesis of corpus callosum, and skeletal anomalies reminiscent of those described in MOPD type I.
View Article and Find Full Text PDFOto-spondylo-megaepiphyseal dysplasia (OSMED) is a very rare disorder due to mutation of type XI collagen. Less than 30 patients have been reported in the literature so far. It could be either of autosomal dominant (OMIM 154780) or recessive (OMIM 215150) etiology.
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