The paper presents a clinical case of colobomatous fossette of the optic nerve papilla complicated with macular decolation, in association with the malignant melanoma of the choroid. Some aspects of the pathogeny of the retinal decoloration are discussed in this context. Some possible corrections between the two border retinal decolorations--the serous interpapillary macular decoloration and the retinal decoloration secondary to the melanoma of the choroid--are also proposed.
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The spectrum of cochlear malformations in CHARGE syndrome and insights into the role of the CHD7 gene during embryogenesis of the inner ear.
Neuroradiology
April 2023
Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond St. London, London, WC1N3JH, UK.
Article Synopsis
- The study aimed to analyze cochlear anomalies in patients with CHARGE syndrome by reviewing genotypes and imaging from two large medical centers.
- Researchers assessed CT and MR imaging from 2005 to 2022, categorizing cochlear abnormalities by severity and noting other related radiological findings.
- Results showed varying cochlear morphology, predominantly hypoplasia, with consistent issues in semicircular canals and vestibules, indicating the CHD7 gene's impact on cochlear development and aiding in clinical diagnosis and surgical planning.
Otopathology in CHARGE syndrome.
Laryngoscope Investig Otolaryngol
February 2020
Department of Otolaryngology Harvard Medical School Boston Massachusetts.
Postmortem temporal bone computed tomography (CT) and histopathologic findings in an infant with CHARGE syndrome revealed bilateral cochleovestibular hypoplasia, including cochlear pathology relevant to cochlear implant candidacy. Both ears had absence of the superior semicircular canals (SCCs), severely hypoplastic posterior SCCs, and hypoplastic (right ear) or absent (left ear) lateral SCCs seen on CT and histopathology. Histopathology further revealed the absence of all SCC ampullae except the right lateral SCC ampulla and atrophic vestibular neuroepithelium in the saccule and utricle bilaterally.
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