Oculocutaneous albinism in Adult
Alerts and Notices
SynopsisOculocutaneous albinism (OCA) represents a group of autosomal recessive disorders characterized by dilution or absence of melanin pigment in the skin, hair, and eyes. In all variants of albinism, melanocytes and melanosomes are normal. The reduction or absence of melanin is caused by abnormalities in tyrosinase or enzymes involved in the biosynthesis and distribution of melanin. The worldwide prevalence is estimated at 1:17 000. All patients with albinism have an increased risk of contracting skin cancers.
Eight subtypes of OCA have been recognized, caused by mutations in different genes.
The genes associated with OCA1-8 are listed below:
- OCA1: TYR – tyrosinase
- OCA2: OCA2 – P gene
- OCA3: TYRP1 – tyrosinase-related protein 1
- OCA4: SLC45A2 – solute carrier family 45 member 2
- OCA5: mapped to chromosome 4q24
- OCA6: SLC24A5 – solute carrier family 24 member 5
- OCA7: LRMDA – leucine-rich melanocyte differentiation associated
- OCA8: DCT- Dopachrome tautomerase
Pigmentary dilution of skin and hair occurs in all patients, but the degree of hypopigmentation varies with each type of albinism.
Ocular changes of OCA and ocular albinism (OA) include nystagmus, reduced visual acuity, strabismus, iris translucency, absent or reduced pigment of the retinal pigment epithelium, misrouting of the optic nerves, foveal hypoplasia, and photophobia.
E70.329 – Oculocutaneous albinism, unspecified
63844009 – Oculocutaneous albinism
Differential Diagnosis & Pitfalls
- Chediak-Higashi syndrome
- Hermansky-Pudlak syndrome
- Ocular albinism
- Menkes kinky-hair syndrome
- Griscelli syndrome
- Waardenburg syndrome type 2 (albinism-deafness syndrome)
- Vici syndrome
- Tietz albinism-deafness syndrome
- Elejalde syndrome
- Prader-Willi and Angelman syndrome
- Total body vitiligo – epidermis lacks melanocytes
Patient Information for Oculocutaneous albinism in Adult
OverviewAlbinism is a group of genetic skin conditions characterized by an inability of the melanocytes (pigment-producing cells) to produce melanin in the skin, hair, and eyes.
Albinism is a result of mutations in one of seven genes. The mutation can result in no melanin or a reduced amount of melanin in skin, hair, and eyes.
There is no cure for albinism.
Albinism is primarily diagnosed through skin examination. Skin findings may vary depending on the gene affected. Individuals with albinism may also have issues with their eyes. For example, individuals may experience sensitivity to light (photophobia), refractive errors such as astigmatism or nearsightedness (myopia), light pigmentation of the retina and iris, crossed eyes (strabismus), and involuntary nystagmus.
The most common phenotypes of each form of albinism include:
- Type A – Complete absence of melanin, white hair, and white skin. Irises are light colored, pink, or red.
- Type B – Identical to Type A with some melanin in the skin and hair by age 3. Irises are blue, green, hazel, or light brown.
- Classic – Skin is creamy white or tan, frequently with freckles. Hair, eyebrows, and eye lashes are yellow, blonde, or light brown. Irises are blue, hazel, brown, or gray.
- Brown – Individuals appear normal with brown skin, hair, and eyes but are significantly lighter skinned (hypopigmented) in comparison to the rest of the family.
- Red – Individuals have light-colored eyes and vision problems, and they typically have red hair.
Who’s At RiskAlbinism is an inherited disease.
Signs & SymptomsThe most recognizable characteristics of albinism are the lack of pigment in the hair and skin. Individuals may also have poor eyesight; reddish-orange reflection apparent in the pupil (red reflex); and rapid, involuntary movement of the eye (nystagmus).
- Wear broad-spectrum, high SPF (30+) sunscreen and clothing and hats to photo-protect. Sun avoidance is also key. These measures are to decrease risk for developing skin cancer.
- Sensitivity to light may be managed with the use of sunglasses or hats.
- Examine your skin and learn the A-B-C-D-E warning signs for skin cancer. Per the US Centers for Disease Control and Prevention (CDC):
- "A" stands for asymmetrical. Does the mole or spot have an irregular shape with two parts that look very different?
- "B" stands for border. Is the border irregular or jagged?
- "C" is for color. Is the color uneven?
- "D" is for diameter. Is the mole or spot larger than the size of a pea?
- "E" is for evolving. Has the mole or spot changed during the past few weeks or months?
When to Seek Medical CareAlbinism increases the risk of a type of skin cancer called squamous cell carcinoma by 1000 times (in the African population). Another type of skin cancer that can affect patients with albinism is basal cell carcinoma. See a dermatologist if you notice changes in spots or moles on your skin and/or new spots or moles.
- There is no cure for albinism; however, treatment focuses on eye care and skin care. A patient's care team will involve their primary care doctor, ophthalmologist, dermatologist, and possibly a geneticist.
- Eye care treatment includes receiving an annual eye examination to monitor for any ocular changes. Skin treatment includes receiving annual or biannual skin assessments to screen for skin cancers or potential cancer lesions.
- Molecular genetic testing can confirm the diagnosis. This method is not routinely done; however, as it is expensive.
Oculocutaneous albinism in Adult