Albinism physical examination
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shadan Mehraban, M.D.[2]
Overview
Physical Examination
- Ocular physical examination findings include:[1]
- Refractive errors
- Strabismus
- Nystagmus
- Foveal hypoplasia
- Iris transillumination
- Decreased iris pigmentation which varies from pink eyes to light blue, green, gray, or light brown
- Yellow to orange retina due to decreased melanosis of the retinal epithelium
- The specific findings of each subtype of albinism are as follows: [2][3]
- Oculocutaneous albinism 1 (OCA1):
- Type A; complete absence of melanin, patients have white skin, white hair, nystagmus, foveal hypoplasia, light-colored, pink or red irides, iris translumination, and visual acuity of 20/100 to 20/400
- Type B; some tyrosine function reserved, patients have yellow to light brown skin, hazel, or light brown irides, and visual acuity of 20/100 to 20/200.
- OCA2:
- Classic OCA2; Creamy white to tan skin, yellow, blond, or light brown hair, eyebrow, eyelashes, blue, hazel, brown or gray irides, visual acuity ranges from 20/25 to 20/200
- Brown OCA2; Brown skin, hair, and eyes; patients are hypo pigmented compared to family members
- Red OCA2; Red hair, light-colored eyes along with vision problems
- OCA3:
- OCA 4:
- Similar to classic OCA2 and visual acuity ranges from 20/30 to 20/400; usually 20/100 to 20/200
- OCA5:
- white skin and golden hair, nystagmus,photophobia, foveal hypoplasia, and impaired visual acuity are present
- OCA6:
- white skin and light hair, brown irides, mild nystagmus, foveal hypoplasia, and mild photophobia are present along with visual acuity of 20/100.
- OCA7:
- lighter skin color compared to family members, light blond to dark brown hair, nystagmus, foveal hypoplasia, iris transillumination are present alon with visual acuity of 20/30 to 20/400
- Hermansky-Pudlak syndrome (HPS):
- white to olive skin, white to brown hair, hypopigmented irides along with nystagmus, foveal hypoplasia, iris transillumination and visual acuity of 20/50 to 20/400
- Individuals with HPS might have bleeding disorders due to platelet dysfucntion, kidney and lung abnormalities, immunodeficiency and hemophagocytic syndrome, pulmonary fibrosis, and granulomatous colitis
- Chediak-Higashi syndrome (CHS):
- OCA symptoms along with pyogenic infections, neutropenia, peripheral neuropathy, and coagulopathy
- Angelman syndrome and Prader-Willi syndrome:
- Ocular albinism (OA1):
- Hypopigmentation is only present in eyes along with nystagmus, foveal hypoplasia, photophobia and visual acuity ranges from 20/100 to 20/200
- Since OA1 is X-linked disorder, males have complete phenotype while females rarely develope nystagmus and low vision
- Oculocutaneous albinism 1 (OCA1):
References
- ↑ "Albinism - StatPearls - NCBI Bookshelf".
- ↑ Dorey SE, Neveu MM, Burton LC, Sloper JJ, Holder GE (2003). "The clinical features of albinism and their correlation with visual evoked potentials". Br J Ophthalmol. 87 (6): 767–72. doi:10.1136/bjo.87.6.767. PMC 1771702. PMID 12770978.
- ↑ Grønskov K, Ek J, Brondum-Nielsen K (2007). "Oculocutaneous albinism". Orphanet J Rare Dis. 2: 43. doi:10.1186/1750-1172-2-43. PMC 2211462. PMID 17980020.