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Klinik und Genetik von Augenentwicklungsst?rungen: MAC-Spektrum und Vorderabschnittsdysgenesien
摘要： To control the development of the ocular phenotype, several coordinated steps of temporally- and spatially-organized networked triggers (inductions) are necessary. This is regulated at the level of transcription. Crucial here are the so-called master genes or DNA-binding transcription factors PAX6, FOXC1, SOX2, FOXE3, OTX2, PITX2 and PAX2. Depending on the disease phenotype, it is possible to conclude on the gestational period in which ocular development was profoundly disrupted. The so-called neural crest cells contribute significantly to the development of eye structures, especially of the anterior segment. The review first presents a brief overview of the embryologic development of ocular structures and then describes major profound developmental disorders of the eyes: phenotypic and genetic features in the MAC spectrum (microphthalmia, anophthalmia, coloboma) as well as anterior segment dysgenesis (Axenfeld-Rieger spectrum, aniridia, Peters anomaly). It also outlines the systemic involvement of these diseases. In clinical and genetic diagnostic pathways, the determining factor is the exact phenotypic characterization that must be preceded by any genetic diagnosis and the further choice of diagnostic options. 'Shotgun diagnostics' on all of the described genes involved in ocular developmental disorders is costly and less effective than a phenotypically-oriented selection of the genes common to the phenotypical syndrome described, and only then should it be followed by the analysis of rarer genes in a second or third molecular genetic step.
关键词： microphthalmia,PAX6,MAC,aniridia,anterior segment dysgenesis,ocular development
更新于2025-09-19 17:15:36
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UNRAVELED FRINGE-LIKE MARGINS AND BIPHASIC AUTOFLUORESCENCE OF UNILATERAL RETINAL PIGMENT EPITHELIUM DYSGENESIS
摘要： To illustrate the features of unilateral retinal pigment epithelium dysgenesis (URPED) in an African-American male patient. A 47-year-old asymptomatic African-American man was referred for an atypical subretinal pigmented mass in the left eye. On examination, visual acuity was 20/20 in both eyes. The right eye was unremarkable. The left eye revealed a darkly pigmented grey-black lesion at the level of the RPE with irregular, unraveled fringe-like margins, consistent with URPED. The lesion measured 5 mm in basal dimension and was located 400 mm from the foveola. The dark portion of the lesion was grey-black and demonstrated homogeneous hypoauto?uorescence, particularly at the site of grey-white peripheral fringe of ?brous metaplasia. By contrast, there was an additional, subtle lacey arrangement of normal-appearing RPE traversing over the entire lesion demonstrating isoauto?uorescence. On ?uorescein angiography, the lesion was generally hypo?uorescent, particularly in the dark portion of the lesion, but the peripheral fringe of ?brous metaplasia displayed angiographic hyper?uorescent staining, and the subtle lacey normal RPE showed iso?uorescence. Optical coherence tomography demonstrated RPE hyperplasia and shallow RPE detachment interspersed with normal-appearing RPE and thinning of outer retina and preservation of the foveola and choroid. In this case, URPED demonstrated biphasic auto?uorescence implying RPE dysfunction in the hypoauto?uorescent area and partial RPE function in the lacey isoauto?uorescent region.
关键词： optical coherence tomography,African-American,retinal pigment epithelium,auto?uorescence,race,dysgenesis
更新于2025-09-12 10:27:22