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Oculocutaneous albinism type 5(OCA5)

MedGen UID:
854888
Concept ID:
C3888401
Congenital Abnormality
Synonym: Albinism, oculocutaneous, type V
SNOMED CT: Oculocutaneous albinism type 5 (722057000)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0014127
OMIM®: 615312
Orphanet: ORPHA370091

Definition

Oculocutaneous albinism is a genetically heterogeneous disorder manifested as a loss of pigmentation in the eyes, skin, and hair (summary by Kausar et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of oculocutaneous albinism, see OCA1 (203100). [from OMIM]

Additional description

From MedlinePlus Genetics
Several additional types of this disorder have been proposed, each affecting one or a few families.

Researchers have identified multiple types of oculocutaneous albinism, which are distinguished by their specific skin, hair, and eye color changes and by their genetic cause. Oculocutaneous albinism type 1 is characterized by white hair, very pale skin, and light-colored irises. Type 2 is typically less severe than type 1; the skin is usually a creamy white color and hair may be light yellow, blond, or light brown. Type 3 includes a form of albinism called rufous oculocutaneous albinism, which usually affects dark-skinned people. Affected individuals have reddish-brown skin, ginger or red hair, and hazel or brown irises. Type 3 is often associated with milder vision abnormalities than the other forms of oculocutaneous albinism. Type 4 has signs and symptoms similar to those seen with type 2.

Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. Oculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); and increased sensitivity to light (photophobia).  https://medlineplus.gov/genetics/condition/oculocutaneous-albinism

Clinical features

From HPO
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Albinism
MedGen UID:
182
Concept ID:
C0001916
Disease or Syndrome
An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Foveal hypoplasia
MedGen UID:
393047
Concept ID:
C2673946
Finding
Underdevelopment of the fovea centralis.

Professional guidelines

PubMed

Aquaron R, Lasseaux E, Kelekele J, Bonello-Palot N, Badens C, Arveiler B, Tshilolo L
Eur J Med Genet 2022 Oct;65(10):104594. Epub 2022 Aug 12 doi: 10.1016/j.ejmg.2022.104594. PMID: 35964929
Kessel L, Kjer B, Lei U, Duno M, Grønskov K
Ophthalmic Genet 2021 Jun;42(3):230-238. Epub 2021 Feb 22 doi: 10.1080/13816810.2021.1881979. PMID: 33612058
White D, Rabago-Smith M
J Hum Genet 2011 Jan;56(1):5-7. Epub 2010 Oct 14 doi: 10.1038/jhg.2010.126. PMID: 20944644

Recent clinical studies

Etiology

Murphy DC, Katta M, Egan CA, Michaelides M, Wickham L
Graefes Arch Clin Exp Ophthalmol 2022 Jul;260(7):2165-2173. Epub 2022 Jan 24 doi: 10.1007/s00417-021-05313-x. PMID: 35072785
Kruijt CC, Gradstein L, Bergen AA, Florijn RJ, Arveiler B, Lasseaux E, Zanlonghi X, Bagdonaite-Bejarano L, Fulton AB, Yahalom C, Blumenfeld A, Perez Y, Birk OS, de Wit GC, Schalij-Delfos NE, van Genderen MM
Invest Ophthalmol Vis Sci 2022 Jan 3;63(1):19. doi: 10.1167/iovs.63.1.19. PMID: 35029636Free PMC Article
Kessel L, Kjer B, Lei U, Duno M, Grønskov K
Ophthalmic Genet 2021 Jun;42(3):230-238. Epub 2021 Feb 22 doi: 10.1080/13816810.2021.1881979. PMID: 33612058
Ruiz-Sanchez D, Garabito Solovera EL, Valtueña J, Aguado Garcia A, Garayar Cantero M, Martinez Garcia G, Manchado Lopez P
Dermatol Online J 2020 May 15;26(5) PMID: 32621707
Dávila PJ, Ulloa-Padilla JP, Izquierdo NJ
Ophthalmic Genet 2017 Mar-Apr;38(2):157-160. Epub 2016 Apr 8 doi: 10.3109/13816810.2016.1151899. PMID: 27058854

Diagnosis

Xu B, Chen X, Li H
Altern Ther Health Med 2023 Oct;29(7):278-283. PMID: 37471664
Murphy DC, Katta M, Egan CA, Michaelides M, Wickham L
Graefes Arch Clin Exp Ophthalmol 2022 Jul;260(7):2165-2173. Epub 2022 Jan 24 doi: 10.1007/s00417-021-05313-x. PMID: 35072785
Kruijt CC, Gradstein L, Bergen AA, Florijn RJ, Arveiler B, Lasseaux E, Zanlonghi X, Bagdonaite-Bejarano L, Fulton AB, Yahalom C, Blumenfeld A, Perez Y, Birk OS, de Wit GC, Schalij-Delfos NE, van Genderen MM
Invest Ophthalmol Vis Sci 2022 Jan 3;63(1):19. doi: 10.1167/iovs.63.1.19. PMID: 35029636Free PMC Article
Kessel L, Kjer B, Lei U, Duno M, Grønskov K
Ophthalmic Genet 2021 Jun;42(3):230-238. Epub 2021 Feb 22 doi: 10.1080/13816810.2021.1881979. PMID: 33612058
Ruiz-Sanchez D, Garabito Solovera EL, Valtueña J, Aguado Garcia A, Garayar Cantero M, Martinez Garcia G, Manchado Lopez P
Dermatol Online J 2020 May 15;26(5) PMID: 32621707

Therapy

Eckembrecher FJ, Eckembrecher DG, Camacho I, Shah H, Jaalouk D, Nouri K
Arch Dermatol Res 2023 Nov;315(9):2505-2511. Epub 2023 May 31 doi: 10.1007/s00403-023-02640-3. PMID: 37253863
Aljohani S, AlJaloud A, Alsakran WA, AlZaid A
Retin Cases Brief Rep 2023 May 1;17(3):302-304. doi: 10.1097/ICB.0000000000001160. PMID: 34001765
Teramae A, Kobayashi Y, Kunimoto H, Nakajima K, Suzuki T, Tsuruta D, Fukai K
J Invest Dermatol 2019 May;139(5):1143-1149. Epub 2018 Nov 14 doi: 10.1016/j.jid.2018.10.033. PMID: 30447237
Akey JM, Wang H, Xiong M, Wu H, Liu W, Shriver MD, Jin L
Hum Genet 2001 Jun;108(6):516-20. doi: 10.1007/s004390100524. PMID: 11499678

Prognosis

Xu B, Chen X, Li H
Altern Ther Health Med 2023 Oct;29(7):278-283. PMID: 37471664
Si S, Jia X, Xu L, Qin Q, Wu J, Ji W, Dong K, Zhang X, Cao L, Wang H, Liu P, Wang R, Bai J, Fu S, Huang Y, Sun W
Pigment Cell Melanoma Res 2023 Nov;36(6):472-480. Epub 2023 Jul 5 doi: 10.1111/pcmr.13111. PMID: 37403904
Murphy DC, Katta M, Egan CA, Michaelides M, Wickham L
Graefes Arch Clin Exp Ophthalmol 2022 Jul;260(7):2165-2173. Epub 2022 Jan 24 doi: 10.1007/s00417-021-05313-x. PMID: 35072785
Kruijt CC, Gradstein L, Bergen AA, Florijn RJ, Arveiler B, Lasseaux E, Zanlonghi X, Bagdonaite-Bejarano L, Fulton AB, Yahalom C, Blumenfeld A, Perez Y, Birk OS, de Wit GC, Schalij-Delfos NE, van Genderen MM
Invest Ophthalmol Vis Sci 2022 Jan 3;63(1):19. doi: 10.1167/iovs.63.1.19. PMID: 35029636Free PMC Article
Hovnik T, Debeljak M, Tekavčič Pompe M, Bertok S, Battelino T, Stirn Kranjc B, Trebušak Podkrajšek K
Acta Chim Slov 2021 Sep;68(3):683-692. PMID: 34897530

Clinical prediction guides

Xu B, Chen X, Li H
Altern Ther Health Med 2023 Oct;29(7):278-283. PMID: 37471664
Murphy DC, Katta M, Egan CA, Michaelides M, Wickham L
Graefes Arch Clin Exp Ophthalmol 2022 Jul;260(7):2165-2173. Epub 2022 Jan 24 doi: 10.1007/s00417-021-05313-x. PMID: 35072785
Hovnik T, Debeljak M, Tekavčič Pompe M, Bertok S, Battelino T, Stirn Kranjc B, Trebušak Podkrajšek K
Acta Chim Slov 2021 Sep;68(3):683-692. PMID: 34897530
Oki R, Yamada K, Nakano S, Kimoto K, Yamamoto K, Kondo H, Kubota T
Invest Ophthalmol Vis Sci 2017 Feb 1;58(2):1008-1016. doi: 10.1167/iovs.16-20612. PMID: 28192564
White D, Rabago-Smith M
J Hum Genet 2011 Jan;56(1):5-7. Epub 2010 Oct 14 doi: 10.1038/jhg.2010.126. PMID: 20944644

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