Gillespie-Syndrom
Gillespie
syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features. a Close up of eyes showing bilateral partial aniridia (b) Lower limbs with generalized wasting and pes planus
Gillespie
syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features. MRI brain performed at 10 years of age revealing cerebellar especially vermis hypoplasia, cerebral atrophy and white matter changes
Gillespie syndrome is a rare genetic condition presenting as a mydriasis, secondary to an omnipresent partial aniridia. The abnormal iris is bilateral, with a highly-specific scalloped inner margin, due to hypoplasia of the central constrictor pupillae fibers. Associated features include an unchanging fixed hypoplasia of the cerebellum and ataxia, diminished intelligence, and congenital loss of muscle tone (hypotonia). The specific genetic defect is a mutation of the ITPR1 (inositol 1,4,5-trisphosphate receptor type 1) gene .
History and etymology
Frederick D Gillespie (1927-fl.2018) an American ophthalmologist, described his eponymous condition in an adult brother and sister in 1965 .
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Assoziationen und Differentialdiagnosen zu Gillespie-Syndrom: