A baby's albinism is often apparent at birth. Several visible characteristics can indicate the presence of albinism.
Visual Indicators of Albinism in Newborns
- Very pale skin: This is a key indicator. The skin will lack the usual pigmentation.
- Very light-colored hair: Hair may be white, light blonde, light brown, or reddish.
- Light-colored eyes: Eye color might be pink, light blue, green, gray, or light brown. The color depends on the type of albinism.
While these visual cues are often apparent, they are not definitive. A medical professional can provide an accurate diagnosis.
Confirmation through Medical Examination and Testing
A doctor will likely compare your baby's features to those of family members. Further confirmation involves:
- Genetic testing: This is the most reliable method to confirm albinism. A genetic test definitively identifies the genetic mutation causing albinism.
- Ophthalmological examination: An ophthalmologist (eye doctor) might perform an electroretinography (ERG) test to assess vision problems associated with albinism. Many forms of albinism affect vision.
The American Academy of Ophthalmology notes that albinism is an inherited condition present from birth, stemming from a gene received from both parents. A child inheriting the gene from only one parent will not display symptoms.
Several sources confirm albinism is often visually obvious at birth, with pale skin, hair, and light-colored eyes being key indicators. However, a definitive diagnosis requires a medical professional's assessment including genetic testing if needed. The NHS also highlights the visual examination of a baby's hair, skin, and eyes as a method for detecting signs of missing pigment. The Mayo Clinic advises contacting a healthcare provider if a child with albinism experiences frequent nosebleeds, easy bruising, or prolonged infections.
