Abstract
The eyes of three patients with trisomy 18, the second most common human autosomal trisomy, were examined histopathologically. In the posterior retina transmission and scanning electron microscopic examinations reveal cytological details characteristic of immature neural retinas. We are able to confirm the report that the posterior retinal pigment epithelium in trisomy 18 has a paucity of mature melanosomes and, in fact, resembles human albino retinal pigment epithelium. The association of hypopigmentation and retinal immaturity suggests pigmentation plays a role in the control of the maturation of the neural retina.
Zusammenfassung
Die Augen von drei Patienten mit Trisomie 18, die zweithäufigste menschliche autosome Trisomie, wurden histopathologisch untersucht. Transmission- und rasterelectronmikroskopische Befunde zeigen zytologische Einzelheiten in der hinteren Netzhaut, die für unreife Neuralretina charakteristisch sind. Wir sind in der Lage das Ergebnis zu bestätigen, daß bei der Trisomie 18 das Pigmentepithel der hinteren Netzhaut einen Mangel an reifen Malanosomen aufweist und dem Netzhautpigmentepithel eines menschlichen Albinos ähnelt. Der Zusammenhang zwischen Hypopigmentierung und unreifer Netzhaut legt nahe, daß bei der Kontrolle des Reifungsprozesses der Neuralretina die Pigmentierung eine Rolle spielt.
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Fulton, A.B., Craft, J.L., Zakov, Z.N. et al. Retinal anomalies in trisomy 18. Albrecht von Graefes Arch. Klin. Ophthalmol. 213, 195–205 (1980). https://doi.org/10.1007/BF00410989
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DOI: https://doi.org/10.1007/BF00410989