Leber Congenital Amaurosis (LCA)

Leber Congenital Amaurosis (LCA) is an inherited ocular condition that primarily affects the retina (photoreceptors in the back of the eye). Most diagnosed with this condition are significantly visually impaired at birth.¹,² In LCA, the photoreceptors, which are the rods and cones of the retina, do not work properly, causing decreased detailed and color vision, as well as, impaired night and peripheral vision.2 LCA is the most common cause of inherited blindness in children, as 1-2 of every 100,000 children are born with LCA.3 LCA may also be associated with systemic findings, although rarer, including hearing loss, developmental delays, and intellectual disabilities.^{2, 3} At birth, the retina may appear normal, but changes later can occur, including retinal degeneration, abnormal pigmentation of retinal tissue, and optic disc abnormalities.³  

Symptoms and signs of LCA include: 

• Rubbing of the eyes (usually in an attempt to stimulate retinal cells), called oculo-digital sign 
• Sunken in appearance of eyes (due to constant rubbing) 
• Nystagmus (involuntary eye movements) 

• Photophobia (sensitivity to light) 
• Keratoconus (steepening and thinning of the cornea, the clear structure in front of the iris) 
• Cataracts (clouding of the lens inside of the eye)² 
• Abnormal pupillary reaction 
• Decreased visual acuity³ 

LCA is a rare ocular condition, which is usually inherited autosomal recessively, meaning both parents must carry the mutated gene.^1,3 This gene mutation causes issues with phototransduction of the Visual Cycle, which is a process that occurs between the retinal pigmented epithelium (RPE, pigmented layer of the retina) and the photoreceptors of the retina to send vision signals to the area of the brain that controls vision.³    

Electroretinography (ERG): measures activity of the retina to determine visual function.  

Genetic testing: available for mutations that cause LCA. 

Dilated ophthalmic examination: an eye care practitioner can note characteristics of LCA by viewing the retina and optic nerve in the back of the eye. 

Ocular coherence tomography (OCT): ultrasound through the more central vision areas, determining if retinal atrophy from LCA is present.³ 

Low vision assessment: consultation with a low vision specialist, as low vision aids, such as telescopes, magnifiers, filters, and more may be beneficial for visual function.  

LUXTURNATM: FDA-approved gene therapy for some genes that cause LCA.³ 

Decreased vision associated with LCA is usually stable or declines very slowly. Wearing sunglasses can be an effective way to reduce light sensitivity associated with LCA. Since LCA can be progressive, it’s important to attend follow-ups as recommended by your eye care provider. Counseling and support groups for patients with LCA are an excellent option for career and life support. Genetic counselling can also be helpful for future planning of having children.³ 

1. Leber Congenital Amaurosis (LCA). (n.d.). Ucsfhealth.Org. Retrieved January 18, 2022, from https://www.ucsfhealth.org/conditions/leber-congenital-amaurosis-lca 
2. NORD – National Organization for Rare Disorders. (2020, June 10). Leber Congenital Amaurosis. Retrieved January 18, 2022, from https://rarediseases.org/rare-diseases/leber-congenital-amaurosis/ 
3. Dumitrescu, A. V., MD, Philander, S. A, Epley, K. D., MD, Tang, P. H., MD, PhD, Levin, M. R., MD, Moshfeghi, A. A., MD, MBA, & Grigorian, A. P., MD. (2020, November 2). Leber Congenital Amaurosis. EyeWiki. Retrieved January 18, 2022, from https://eyewiki.aao.org/Leber_Congenital_Amaurosis