All individuals with variants in gene TEAD1

11 entries on 1 page. Showing entries 1 - 11.
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00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 1 1 Yu Sun
00372391 Fam2 PubMed: Schrauwen 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents - - - - - - - - ? see paper; ..., normal corpus callosum, retinal lacunae, 3.5m-infantile seizures; cerebellar cyst, periventricular heterotopias 1 1 Johan den Dunnen
00372393 family PubMed: Fossdale 2004 81 patients from 10 related families F;M - Iceland - - - - - SCRA see paper; ..., symmetrical lesions radiating from the optic disc involving retina and choroid 1 81 Johan den Dunnen
00376317 - PubMed: Avela 2019 present in unaffected mother - - Finland Finnish - - - - retinal disease - 1 1 LOVD
00391363 19 {PMID:Méjécase 2020:3278337 - ? - United Arab Emirates - - - - - retinal disease - 1 1 LOVD
00408444 31 PubMed: Avela 2019 - ? - Finland - - - - - retinal disease - 1 1 LOVD
00417484 ? PubMed: Jonasson 2007 - F - - Icelandic 82y - - - SCRA congenital anterior polar cataracts and Sveinsson chorioretinal atrophy from childhood lost central vision in both eyes within 1 year because of the extension of Sveinsson chorioretinal atrophy into the macula; intravenous fluorescein angiography: the most severely affected areas apparently lacked retinal pigment epithelium (RPE) and a choroidal vasculature, in less severely affected areas, the RPE and choriocapillaris absent but some choroidal blood vessels still present; at some sites in the transitional zone between affected and apparently healthy tissue, some fluorescein leakage apparent from the margins of a still-functioning choriocapillaris; retinal blood vessels unaffected. Eyes enucleated within 4 hours of death at the age of 82 years, right eye fixed in formalin for light microscopy; light microscopy: the macroscopic changes reflected atrophy of the sensory retina and choroid and a loss of RPE; none of the examined retinal tissue had a multilayered ganglion cell layer; macular region and fovea could not be identified, abnormalities most conspicuous in the areas of total RPE atrophy and somewhat less marked in the zones between the atrophic and normal sensory retina; at the margin of some affected areas, only RPE and the photoreceptor outer segment junctions affected; portions of the posterior retina extremely well preserved, in sharp contrast to the degenerated sensory retina; at the margin between apparently normal and atrophic retina, a portion of the retina contained small eosinophilic globular material apparently derived from photoreceptors, adjacent to a multilayered RPE that seemed to contain multinucleated cells and may reflect a tangential section through the retina; severely degenerated sensory retina rested on a thin Bruch’s membrane that devoid of a normally attached RPE; in the more severely affected areas, the sensory retina, RPE, and choriocapillaris absent, exposing an extremely thin atrophic choroid with very few melanocytes and a naked sclera; Bruch’s membrane in the vicinity of theic nerve head: several focal thickenings and excrescences; discrete atrophic areas of the posterior sensory retina characterized by degenerate retinal cells adherent to the underlying choroid, in contrast to normal eyes, in which the sensory retina is separated from the RPE by a potential space that typically becomes accentuated because of the artifactual separation of these structures in eyes studied after death; the peripheral sensory retina not adherent to the attenuated RPE. Histopathologic observations: some transitions between affected and unaffected areas, both the RPE and the outer segments of the photoreceptors ended abruptly, but the nuclei of the photoreceptors retained a normal appearance slightly further into the more severely affected area; other areas in the posterior pole affected similarly, except that the RPE immediately terminated, whereas the outer segments of the photoreceptors persisted further toward the peripheral retina; advanced changes included a disappearance of the RPE, photoreceptors, and choriocapillaris, and when Bruch’s membrane could be identified, it thin and the adjacent choriocapillaris atrophic; most advanced areas: all layers between the bipolar neurons and the sclera absent; peripheral retina contained areas without photoreceptors, underlying individual cells of the RPE sparse and attenuated, much thinner than normal but still formed a continuous layer beneath the photoreceptors in the peripheral retina; optic nerve: normal in cross sections, diameter half to two thirds of normal and the subarachnoid space wider than normal, but well myelinated, indicating hypoplasia rather than atrophy of the optic ; lens cataractous, but the remainder of the eye essentially unremarkable and within the normal limits expected for the patient’s age; inflammatory cells: not detected in any of the tissue sect 1 1 LOVD
00417489 Case 2 PubMed: Tosi 2009 proband's mother, the only family member to be screened for mutation - segregation unknown; Case 1 (daughter) and Case 3 (mother) not genetically tested F - - - - - - - SCRA uncorrected visual acuity right, left eye: 20/25+2, 20/20; anterior segmen: unremarkable without anterior polar cataracts; funduscopy: characteristic chorioretinal atrophy lesions radiating from the optic discs; peripapillary choroidal-retinal atrophy was symmetric in both eyes; no signs of macular edema; scanning laser ophthalmoscopy: autofluorescent pattern was consistent with retinal pigment epithelium and choroidal atrophy along the peripapillary region in both eye; autofluorescent hyperdensity along the edge of the chorioretinal degeneration secondary to the retinal pigment epithelium atrophy; optical coherence tomography examination showed only a remaining thin layer of Bruch���������s membrane after retinal pigment epithelium loss, larger choroidal vessels visible through this area devoid of retinal pigment epithelium cells; electroreti 1 1 LOVD
00417490 1 PubMed: Grubisa 2021 Serbian family, father; more detailed clinical findings in Milenkovic et al.,2005 M - Bosnia and Herzegovina Serbian - - - - SCRA - 1 1 LOVD
00417491 2 PubMed: Grubisa 2021 Serbian family, daughter; more detailed clinical findings in Milenkovic et al.,2006 F - Bosnia and Herzegovina Serbian - - - - SCRA - 1 1 LOVD
00417492 3 PubMed: Grubisa 2021 Serbian family, son; more detailed clinical findings in Milenkovic et al.,2007 M - Bosnia and Herzegovina Serbian - - - - SCRA - 1 1 LOVD
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