IllnessAlbinism, ocular/oculocutaneous; differential diagnosis

NGS +

Oculocutaneous albinism is a group of disorders that affect the pigmentation of the skin, hair and eyes. Long-term sun exposure increases the risk of skin damage and skin cancer, including malignant melanoma. Reduced pigmentation of the iris and retina leads to decreased visual acuity, nystagmus and photophobia. The most common forms of albinism are inherited in an autosomal recessive manner. The diagnostic yield captures the genetic forms in approximately 50% of the patients. An inconspicuous genetic finding does not mean that the suspected clinical diagnosis is excluded. Even in the corresponding absence of syndromologic signs, Hermansky-Pudlak, Chediak-Higashi and Griscelli syndrome types 1 and 2 should not be disregarded in the differential diagnosis of ocular/oculocutaneous albinism.

References: 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)