Learn more about Leber Congenital Amaurosis, including The Symptoms, The Causes, and The Treatments.
Leber congenital amaurosis (LCA) is an inherited retinal disease that causes sight loss in very young children or at birth. Leber congenital amaurosis causes the photoreceptors (light capturing cells) in the retina (light sensitive layer at the back of the eyes) to stop working. This causes children with Leber congenital amaurosis to progressively lose their vision. Leber congenital amaurosis is relatively rare, approximately 1 in 80,000 children are affected and there are up to 20 different forms of Leber congenital amaurosis. Leber congenital amaurosis symptoms can vary with each type.
Symptoms start from early childhood or birth and progress; they could remain stable through early adulthood
• Nystagmus (involuntary shaking of the eyes)
• Reduced or loss of vision
• Tunnel vision (loss of peripheral vision)
• Lack of visual response in babies
• Night blindness
• Poor pupil reactions
• Deep set or sunken eye
• Children may press their eyes with their fingers or fists, this known as oculodigital syndrome or reflex
• Sensitivity to bright lights
• Hypermetropia (long sighted)
• Can be associated with other systemic or developmental conditions.
The retinas of infants with Leber congenital amaurosis may appear normal, however a test called an electroretinography (ERG) will detect little or no visual function. This is one of the tests that can be used to diagnose Leber congenital amaurosis.
As the child gets older, blood vessels on the retina appear narrow, pigmentary changes are seen on the retina (salt and pepper changes), atrophy of the choroid, retina and optic nerves are seen too.
Leber congenital amaurosis is inherited. So far 20 different types of defective genes have been identified as cause of Leber congenital amaurosis. Some of these genes are RPE65 (LCA 2); AIPL1 (LCA 4); CEP290 (LCA 10) and RDH12 (LCA 13). Defects in the gene cause the loss of normal vision.
There is currently no treatment for Leber congenital amaurosis. However there are clinical trials being conducted into the replacement of the mutated gene RPE65, to re-establish normal vision. The research is looking into using a virus to replace the defective gene with a normal healthy gene. The trials showed improvement in vision with patients suffering from Leber congenital amaurosis, however they are still on going and more trials for other forms of Leber congenital amaurosis are being planned. Another research treatment is an oral tablet that can reawaken the retinal cells, to improve vision. Whilst the treatments are still undergoing research it does give hope for the future.
• Patients may be referred to a low vision clinic. A low vision clinic will give patient’s practical advice and magnifying aids to help see better
• Some hospital eye services have an ECLO (Eye Clinic Liaison Officer) who can provide further support
• Check with your ophthalmologist if you can be registered as sight impaired or severely sight impaired. Registration can help with financial concessions and expert practical help
• Children will need to be reviewed by different governing bodies, which will produce a statement on how to best help the child learning & development. Please click the link for further information.
• Contacting the RNIB for further support, visual aids and practical advice.
RNIB, 0303 123 9999, email@example.com, or visit the RNIB at 105 Judd St, London WC1H 9NE
Eyedeal Vision is such a fantastic opticians with amazing staff, I would not dream of going anywhere else!! The range of frames are brilliant and the help of everyone in choosing frames that suit you is even better!!
Excellent service, very friendly stuff. Thank you. Alex
I have used Eyedeal for my whole 10+ years of wearing glasses because of their excellent services. Very friendly and polite staff with a high standard of work.
Professional, thorough and friendly! I come out confident and reassured, and love my glasses!
From start to finish, this was a positive experience. From the welcoming staff through the expert eye tests to the technician phase - this is how it should be done. Can’t recommend eyedeal vision highly enough.
Great service, helpful staff, would highly recommend. R. Jackson
If you need quality, service Eyedeal is the optician you are looking.
To thank you for the expert treatment and advice i have received over the last 20 years. Gracelyn
I would recommend Eyedeal Vision to anyone. I’ve been using them for many years, and it’s a real pleasure to go in for my check ups, the staff are so friendly and helpful.
We have used Eyedeal Vision for many years and are extremely happy with the service we receive. Everyone's always very polite and friendly. Highly recommended.
Please Contact Eyedeal Vision Opticians at Chingford for any queries you may have. If you would like to book an appointment for an eye examination, please select the Book Your Appointment link. For any other enquiry please use the Contact Us form here.
40 Station Road
If you would like to request an appointment for one of our eye examination, please select the Request Your Appointment link Above.