- Loss of night vision (apparent in childhood)
- Blind spots or loss in peripheral vision
There is an examination of the retina to reveal abnormal, dark pigment deposits that streak the retina.
Could result in Usher Syndrome
Usher Syndrome is characterized as the combination of hearing loss and loss of vision early in life
Genetic pattern of inheritance?
This is an X-linked recessive pattern of inheritance
"I had a good social life I had friends and thought I knew where I was going. All of a sudden this hit me I didn’t know where I stood in the world – the solid ground I thought I had had gone. I fell between two worlds – the sighted world and the blind world – and didn’t know where I fitted in.” -Joan Kearns
Current research and treatments
Leber congenital amaurosis has improved vision for people with this disease, stem cells are said to be making promise in the lab. Treatments such as canine or guard dogs have helped tremendously by keeping the patients happy and safe.
Blast. US National Library of Medicine, 2017, blast.ncbi.nlm.nih.gov/Blast.cgi. Accessed 3 Feb. 2017.
"Facts about Retinitis Pigmentosa." NEI, National Eye Institute, May 2014, nei.nih.gov/health/pigmentosa/pigmentosa_facts. Accessed 3 Feb. 2017.
"Meet Joan Kearns." Fighting Blindness, www.fightingblindness.ie/support/personal-stories/joan/. Accessed 3 Feb. 2017.
"Retinitis Pigmentosa." National Human Genome Research Institute, USA.gov, 2 Feb. 2017, www.genome.gov/10000475/current-news-releases/. Accessed 3 Feb. 2017.
"Retinitis Pigmentosa." Pubmed, National library of medicine, 2017, www.pubmed.com/. Accessed 3 Feb. 2017.
"X-Linked Retinitis Pigmentosa." AGTC, 2017, www.agtc.com/products/x-linked-retinitis-pigmentosa. Accessed 3 Feb. 2017.