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Loss-of-function mutations in a calcium-channel α1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness
X-linked congenital stationary night blindness (CSNB) is a recessive non-progressive retinal disorder characterized by night blindness, decreased visual acuity, myopia, nystagmus and strabismus. TwoExpand
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Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.
X-linked congenital stationary night blindness (CSNB) is a recessive non-progressive retinal disorder characterized by night blindness, decreased visual acuity, myopia, nystagmus and strabismus. TwoExpand
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Variable expressivity in X-linked congenital stationary night blindness.
X-linked congenital stationary night blindness (CSNB) is a well-documented disorder in which the most striking clinical features are impaired night vision, nystagmus and myopia. Recent reports haveExpand
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Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25.
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Autosomal-dominant iridogoniodysgenesis and Axenfeld-Rieger syndrome are genetically distinct.
PURPOSE To determine whether there is a locus for iridogoniodysgenesis (IGD)/ familial iris hypoplasia in the region of the known Axenfeld-Rieger syndrome (ARS) locus at 4q25 and to determine theExpand
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Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome.
Axenfeld-Rieger syndrome (ARS) and iridogoniodysgenesis syndrome (IGDS) are clinically related autosomal dominant disorders which affect the anterior segment of the eye as well as non-ocularExpand
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Congenital endothelial corneal dystrophy. Clinical, pathological, and genetic study.
The hereditary corneal dystrophies are remarkable in that only rarely do sufficient opacifications exist at birth or appear during infancy to merit both the prefix "congenital", i.e. a disturbanceExpand
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Inferior rectus muscle restriction after retrobulbar anesthesia for cataract extraction.
Among the recognized complications of retrobulbar anesthesia, postoperative permanent diplopia has rarely been reported. We describe two patients with inferior rectus muscle restriction afterExpand
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Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25.
Autosomal dominant iridogoniodysgenesis anomaly (IGDA) is characterized by iris hypoplasia and goniodysgenesis with frequent juvenile glaucoma. IGDA is the result of aberrant migration or terminalExpand
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Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F.
BACKGROUND Incomplete X-linked congenital stationary night blindness (CSNB) is a clinically variable condition that has been shown to be caused by mutations in the calcium-channel CACNA1F gene. WeExpand
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