Zusammenfassung
Albinismus wird unterteilt in die okulokutane (OCA) und die okuläre Form (OA). Differenzialdiagnostisch abzugrenzen sind seltene, häufig mit Infektanfälligkeit und neurologischen Symptomen assoziierte Syndrome mit partiellem Albinismus. Der OCA ist eine autosomal-rezessiv vererbte Erkrankung der Melaninbiosynthese, die zu vollständigem oder partiellem Verlust von Melanin in Haut, Haarfollikeln und Augen führt. Von den heute bekannten 7 Subtypen (OCA 1–7) sind 4 (OCA1–4) gut charakterisiert. Ihnen liegen Mutationen in Genen zugrunde, die für Tyrosinase – Schlüsselenzym der Melaninsynthese – und für weitere Proteine codieren. Diese spielen eine wichtige Rolle für die katalytische Aktivität der Tyrosinase sowie die Struktur und die Funktion von Melanosomen. Klinische Symptome und Krankheitsverlauf bei Vorliegen dieser Subtypen, insbesondere Art und Ausmaß der Pigmentierung von Haut und Haaren sowie Schwere der Augenbeteiligung, zeigen eine ausgeprägte Variabilität, die die phänotypische Klassifizierung erschwert. In der Therapie stehen konsequenter UV-Lichtschutz zur Hautkrebsprophylaxe und regelmäßige Vorsorgeuntersuchungen im Vordergrund. Die albinismustypischen Augenveränderungen erfordern die frühzeitig einsetzende Diagnostik und Betreuung durch spezialisierte ophthalmologische Einrichtungen. Neue Strategien zur systemischen Behandlung von Subtypen des Albinismus sind in präklinischer Erprobung. Der OA ohne Hautbeteiligung wird X‑chromosomal vererbt, ist wesentlich seltener und durch reduzierte Pigmentierung von Retina und Iris mit Bildung von Makromelanosomen und Makulahypoplasie mit z. T. erheblicher Visusverschlechterung gekennzeichnet. Die typischen Augensymptome des OA wie Nystagmus und Blendempfindlichkeit können in unterschiedlicher Ausprägung bei allen OCA-Formen auftreten.
Abstract
Albinism can be divided into oculocutaneous albinism (OCA) and ocular albinism (OA). In the differential diagnostics these can be distinguished from rarer syndromes with partial albinism, which are frequently associated with susceptibility to infections and neurological symptoms. The OCA is an autosomal recessive inherited disease of melanin biosynthesis, which leads to complete or partial loss of melanin in the skin, hair follicles and eyes. Of the seven currently known subtypes (OCA 1–7), four are well-characterized (OCA 1–4). These are based on gene mutations, which code for tyrosinase, a key enzyme in melanin synthesis and for further proteins. These play an important role in the catalytic activity of tyrosinase and the structure and function of melanosomes. In the presence of these subtypes, the clinical symptoms and the course of the disease show a pronounced variability, especially in the type and extent of pigmentation of the skin and hair as well as the severity of eye involvement, which makes the phenotypic classification difficult. Treatment priorities are a consistent protection from UV light for prophylaxis against skin cancer and regular preventive investigations. The ocular alterations typical for albinism necessitate timely diagnostics and care by institutions specialized in ophthalmology. Novel strategies for systemic treatment of subtypes of albinism are in preclinical testing. The OA without skin involvement shows X‑linked inheritance, is much rarer and is characterized by reduced pigmentation of the retina and iris, nystagmus and macular hypoplasia, sometimes with substantial loss of visual acuity. The typical ocular symptoms of OA can be manifested to a varying extent in all forms of OCA.
Abbreviations
- CHS:
-
Chediak-Higashi-Syndrom
- GS:
-
Griscelli-Syndrom
- HPS:
-
Hermansky-Pudlak-Syndrom
- LRR:
-
„leucine-rich repeat“
- OA:
-
okulärer Albinismus
- OCA:
-
okulokutaner Albinismus
- OCT:
-
optische Kohärenztomographie
- RPE:
-
retinales Pigmentepithel
- TYR:
-
Tyrosin
- WS:
-
Waardenburg-Syndrom
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Kubasch, A.S., Meurer, M. Okulokutaner und okulärer Albinismus. Hautarzt 68, 867–875 (2017). https://doi.org/10.1007/s00105-017-4061-x
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DOI: https://doi.org/10.1007/s00105-017-4061-x