ErkrankungAlbinismus, okulär/okulokutan; Differentialdiagnose

NGS +

Okulokutaner Albinismus ist eine Gruppe von Erkrankungen, die die Pigmentierung von Haut, Haaren und Augen beeinträchtigen. Langfristige Sonnenexposition erhöht das Risiko von Hautschäden und Hautkrebs, einschließlich des malignen Melanoms. Die reduzierte Pigmentierung der Iris und der Netzhaut führt zu verminderter Sehschärfe, Nystagmus und Photophobie. Die häufigsten Formen werden autosomal rezessiv vererbt. Die diagnostische Ausbeute erfasst die genetisch bedingten Formen bei ca. 50% der Patienten. Ein unauffälliger genetischer Befund bedeutet keinen Ausschluss der klinischen Verdachtsdiagnose. Auch bei entsprechend fehlenden syndromologischen Anzeichen sollten bei okulärem/okulokutanem Albinismus differentialdiagnostisch Hermansky-Pudlak, Chediak-Higashi und Griscelli Syndrom Typ 1 und 2 nicht außer Acht gelassen werden. Referenzen: https://www.ncbi.nlm.nih.gov/books/NBK1166/https://www.ncbi.nlm.nih.gov/books/NBK1232/https://www.ncbi.nlm.nih.gov/books/NBK1343/https://www.ncbi.nlm.nih.gov/books/NBK1510/https://www.ncbi.nlm.nih.gov/books/NBK1287/

• Alias: Ocular albinism
• Alias: Ocular cutaneous albinism, OCA
• Alleilic: Skin/hair/eye pigmentation 3, blue/green eyes (TYR)
• Allelic: Amelogenesis imperfecta, type IIA5 (SLC24A4)
• Allelic: Analgesia from kappa-opioid receptor agonist, female-specific (MC1R)
• Allelic: COMMAD [Coloboma, Osteopetr., Microphth., Macroceph., Albinism, Deafness] syndrome (MITF)
• Allelic: Deafness, AD 69, unilateral or asymmetric (KITLG)
• Allelic: Foveal hypoplasia 2, +/- optic nerve misrouting +/- anterior segment dysgenesis (SLC38A8)
• Allelic: Hyperpigmentation with/-out hypopigmentation (KITLG)
• Allelic: Melanoma, cutaneous malignant, 5 (MC1R)
• Allelic: Melanoma, cutaneous malignant, susceptibility to, 8 (MITF)
• Allelic: Melanoma, cutaneous malignant, susceptibility to, 8 (TYR)
• Allelic: Nystagmus 6, congenital, XL (GPR143)
• Allelic: Skin/hair/eye pigmentation, variation in, 8 (IRF4)
• Allelic: UV-induced skin damage
• Albinism, brown oculocutaneous (OCA2)
• Albinism, oculocutaneous, type IA (TYR)
• Albinism, oculocutaneous, type IB (TYR)
• Albinism, oculocutaneous, type II (OCA2)
• Albinism, oculocutaneous, type II, modifier of (MC1R)
• Albinism, oculocutaneous, type III (TYRP1)
• Albinism, oculocutaneous, type IV (SLV45A2)
• Albinism, oculocutaneous, type VI (SLC24A5)
• Albinism, oculocutaneous, type VII (LRMDA)
• Albinism, oculocutaneous, type VIII (DCT)
• Blaschko-linear hypopigmentation (KITLG)
• Chediak-Higashi syndrome (LYST)
• Griscelli syndrome, type 1 + 2 (MYO5A + RAB27A)
• Hermansky-Pudlak syndrome 1-6 (HPS1, AP3B1, HPS3, HPS4, HPS5, HPS6)
• Hermansky-Pudlak syndrome 7-11 (DTNBP1, BLOC1S3, BLOC1S6, AP3D1, BLOC1S5)
• Ocular albinism, type I, Nettleship-Falls type (GPR143)
• Oculocutaneous albinism, type VIII (DCT)
• Progressive hyper-+ hypopigmentation (KITLG)
• Skin/hair/eye pigment., blond/fair skin; Skin/hair/eye pigment., red hair/fair skin (MC1R)
• Skin/hair/eye pigmentation 1, blond/brown hair (OCA2)
• Skin/hair/eye pigmentation 1, blue/nonblue eyes (OCA2)
• Skin/hair/eye pigmentation 10, blond/brown hair (TPCN2)
• Skin/hair/eye pigmentation 10, blond/brown hair (TPCN2)
• Skin/hair/eye pigmentation 2, blond hair/fair skin (MC1R)
• Skin/hair/eye pigmentation 2, red hair/fair skin (MC1R)
• Skin/hair/eye pigmentation 3, light/dark/freckling skin (TYR)
• Skin/hair/eye pigmentation 4, fair/dark skin (SLC24A5)
• Skin/hair/eye pigmentation 5, black/nonblack hair (SLC45A2)
• Skin/hair/eye pigmentation 5, dark/fair skin (SLC45A2)
• Skin/hair/eye pigmentation 5, dark/light eyes (SLC45A2)
• Skin/hair/eye pigmentation 6, blond/brown hair (SLC24A4)
• Skin/hair/eye pigmentation 6, blue/green eyes (SLC24A4)
• Skin/hair/eye pigmentation 7, blond/brown hair (KITLG)
• Skin/hair/eye pigmentation 9, brown/nonbrown eyes (ASIP)
• Skin/hair/eye pigmentation 9, dark/light hair (ASIP)
• Skin/hair/eye pigmentation, blond/brown hair, blue/green eyes (SLC24A4)
• Skin/hair/eye pigmentation, variation in, 11 [Melanesian blond hair] (TYRP1)
• Skin/hair/eye pigmentation, variation in, 8 (IRF4)
• Tietz albinism-deafness syndrome (MITF)
• Vici syndrome (MYO5A)
• Waardenburg syndrome, type 2A (MITF)
• Waardenburg syndrome/albinism, digenic (TYR)
• Waardenburg syndrome/ocular albinism digenic (MITF)