MIAMI – An estimated one in 18,000 people in the U.S. is living with an inherited genetic condition that can increase the risk of vision loss and skin cancer.
Long before the birth of her 3-year-old daughter, Curshante Brittain realized she might be a carrier for a genetic condition called occulocutaenous albinism or OCA.
“When I had my daughter, I wasn’t really too surprised because my sister had already went through that,” Brittain said.
Brittain recently gave birth to twins, one of who also has OCA, a mutation in the gene that forms melanin.
“And it can present as a range, so some kids or adults you might see with completely blonde hair, blue eyes, very light skin, and some people might have a more subtle version of that, so it’s actually a spectrum,” said Dr. Luxme Hariharan, a pediatric ophthalmologist with Nicklaus Children’s Hospital.
Hariharan said the impact on the eyes is of particular concern.
“They might be very light sensitive, they might have what we call translumination defects, which is in the iris of the eye, so that illuminates that there is no pigment there and also we found there’s a disconnect or misfiring of the optic nerve fibers, and that’s where you can have decreased vision,” she said.
Children like Brittain’s daughter, Ja’Lani, can be helped by special glasses and tools, but she may ultimately need surgery to prevent blindness.
“I have a lot of hope, but I have plans on being ahead of myself, meaning I’m going to put her in a school that’s going to teach her braille and everything ahead of time, you know, because you never know,” Brittain said.
Researchers at the National Institutes of Health have developed the first human derived stem cell model of albinism to help better develop screenings and therapies for eye related conditions.