Albinimus und das Spektrum der Fundushypopigmentierung, der Makulahypoplasie und des Nystagmus

Zusammenfassung

Der Albinismus ist eine Erkrankung, die sich ophthalmologisch als reduzierte Pigmentierung des retinalen und iridalen Pigmentepithels sowie des Iris- und des Aderhautstromas darstellt. Zusammen mit der reduzierten Pigmentierung finden sich morphologische Veränderungen der Netzhaut und des Sehnervs, deren funktioneller Zusammenhang bislang nicht ausreichend geklärt ist. Diese Übersichtsarbeit fasst die genetischen Ursachen der beeinträchtigten Pigmentsynthese und Pigmentverteilung zusammen und bewertet die Variabilität in der Ausprägung der Symptome des Albinismus im Rahmen der Differenzialdiagnose mit anderen Erkrankungen der Netzhautentwicklung.

Abstract

From the ophthalmological view, albinism is a disorder of reduced pigmentation of the retinal and irdial pigment epithelium and the iris and choroid stroma. The reduced pigmentation is accompanied by morphological changes in the retina and the optic nerve. The functional relationship of these morphological changes is not yet well understood. This review summarises the genetic causes of reduced pigment synthesis and impaired pigment distribution, and discusses the variability of expression of albinism symptoms, in the light of other disorders affecting retinal development.

Schlüsselwörter

Albinismus - Genetik - Nystagmus - Makulahypoplasie - Fundushypopigmentierung

Key words

albinism - genetics - nystagmus - macular hypoplasia - fundus hypopigmentation

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