Severe chorioretinal atrophy in Boucher-Neuhauser syndrome
نویسندگان
چکیده
منابع مشابه
Boucher-Neuhauser syndrome associated with hypocalciuric hypercalcemia.
A 52-year-old woman was diagnosed as having cerebellar ataxia, hypogonadotropic hypogonadism and retinochoroidal degeneration, the so-called, "Boucher-Neuhauser" syndrome proposed by Limber et al (Am J Med Genet 33:409, 1989). In addition, laboratory findings showed the elevation of serum calcium (Ca) levels, low urinary Ca excretion, and exaggerated reabsorption of filtrated Ca (FECa:0.14%), s...
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The patient was a 15-year-old girl with an established diagnosis of Alagille syndrome (AS) since early life. Her medical history was significant for systemic manifestations of AS including liver transplantation and pulmonary artery balloon dilation. She had an unusual triangular facies characterized by a broad overhanging forehead, deep set, hyperteloric eyes and small pointed chin. Her bestcor...
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This report describes an atypical case of pigmented paravenous chorioretinal atrophy, associated with focal progressive peripheral retinal microangiopathy, in a 51-year-old black female. The eyes were asymmetrically involved. Although several cases have been reported with typical features of this uncommon entity, none of them have been known to be associated with retinal microangiopathy. The oc...
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Boucher-Neuhäuser and Gordon Holmes syndromes are clinical syndromes defined by early-onset ataxia and hypogonadism plus chorioretinal dystrophy (Boucher-Neuhäuser syndrome) or brisk reflexes (Gordon Holmes syndrome). Here we uncover the genetic basis of these two syndromes, demonstrating that both clinically distinct entities are allelic for recessive mutations in the gene PNPLA6. In five of s...
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A 26-year-old-man who had suffered a severe electrical injury 3 years previously presented with blurred vision in his left eye caused by a posterior subcapsular cataract with nuclear sclerotic changes and peripapillary chorioretinal scarring. The pattern of retinal atrophy surrounding the optic nerve suggests a possible path of electrical current to the eye and demonstrates the selective tissue...
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ژورنال
عنوان ژورنال: Canadian Journal of Ophthalmology
سال: 2020
ISSN: 0008-4182
DOI: 10.1016/j.jcjo.2019.07.001