Leber congenital amaurosis
Dernière mise à jour 6 Oct 2022
Respecte les directives éditoriales
- TéléchargerTélécharger
- Partager
- Language
- Discussion
- Version audio
- Ajouter aux sources préférées sur Google
Leber congenital amaurosis, also known as LCA, is an eye disorder that is present from birth (congenital). This condition primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and colour. People with this disorder typically have severe visual impairment beginning at birth or shortly afterward. The visual impairment tends to be severe and may worsen over time.
Description
Leber congenital amaurosis, also known as LCA, is an eye disorder that is present from birth (congenital). This condition primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and colour. People with this disorder typically have severe visual impairment beginning at birth or shortly afterward. The visual impairment tends to be severe and may worsen over time.
Leber congenital amaurosis is also associated with other vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). The pupils, which usually expand and contract in response to the amount of light entering the eye, do not react normally to light. Instead, they expand and contract more slowly than normal, or they may not respond to light at all.
A specific behaviour called Franceschetti's oculo-digital sign is characteristic of Leber congenital amaurosis. This sign consists of affected individuals poking, pressing, and rubbing their eyes with a knuckle or finger. Poking their eyes often results in the sensation of flashes of light called phosphenes. Researchers suspect that this behaviour may contribute to deep-set eyes in affected children.
In very rare cases, delayed development and intellectual disability have been reported in people with the features of Leber congenital amaurosis. Because of the visual loss, affected children may become isolated. Providing children with opportunities to play, hear, touch, understand and other early educational interventions may prevent developmental delays in children with Leber congenital amaurosis.
At least 20 genetic types of Leber congenital amaurosis have been described. The types are distinguished by their genetic cause, patterns of vision loss, and related eye abnormalities.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant; Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
Amaurosis, Leber congenital
Congenital amaurosis of retinal origin
Congenital retinal blindness
CRB
Dysgenesis neuroepithelialis retinae
Hereditary epithelial dysplasia of retina
Hereditary retinal aplasia
Heredoretinopathia congenitalis
LCA
Leber abiotrophy
Leber congenital tapetoretinal degeneration
Leber's amaurosis
Related patient information and medicines
Patient information leaflet
IRM
Une IRM est a safe and painless test that can provide detailed pictures of organs and other structures inside your body. Note : the information below is a general guide only. The arrangements (and the way tests are performed) may vary between different hospitals. Always follow the instructions given by your doctor or local hospital. These are.
Patient information leaflet
Occlusion de l'artère rétinienne
Occlusion de l'artère rétinienne occurs when the retinal artery or one of its branches becomes blocked. This cuts off the blood and nutrient supply to the nerve layer of the retina, leading to permanent damage. It is a common cause of sudden loss of vision in one eye, which occurs over a few seconds. Acting on warning signs: seeking medical help.
Patient information leaflet
Perte auditive
Causes de conductive hearing loss: the eardrum and ear canal Blockage of the ear canal The most common cause of blockage in the ear canal is wax. In some cases there might be partial or even complete recovery over time, although in other cases the loss ... Congenital hearing loss Congenital hearing loss est hearing loss present at birth. Most cases.
Patient information leaflet
Porphyrie
Cependant, le porphyrias are also commonly classified according to the effects that they have on the body and the symptoms that they produce. Porphyrias can be: Acute porphyrias Symptoms of acute porphyria can vary. Erythropoietic protoporphyria. Porphyrie érythropoïétique congénitale (also known as Günther's disease). Mixed porphyrias This type of.
Patient information leaflet
Épilepsie et planification de la grossesse
It is essential that you seek expert advice from a doctor or épilepsie nurse specialist when you are considering starting a family. How will my epilepsy be treated if I become pregnant. Doctors are continuing to learn more about the best ... By enrolling with the UK Épilepsie and Pregnancy Register if you are enceintes and have l'épilepsie, you will.
Patient information leaflet
syndrome de Down
A bigger than normal space between the first and second toe (the 'sandal gap'). Muscles. Muscles that lack tone and can be quite floppy (this is often most noticeable in babies). Low weight. Babies may have a low birth weight. Problems with physical and mental development Learning difficulties. Everyone with Down's syndrome will have some degree.
Lectures complémentaires et références
- Leber congenital amaurosis; MedlinePlus, National Library of Medicine.
- Balbirsingh V, Daich Varela M, Michaelides M. Clinical Characteristics of Patients With Less Common Causes of Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy. Am J Ophthalmol. 2025 Aug;276:297-306. doi: 10.1016/j.ajo.2025.04.019. Epub 2025 Apr 26.
- den Hollander AI, Roepman R, Koenekoop RK, Cremers FP. Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res. 2008 Jul;27(4):391-419. doi: 10.1016/j.preteyeres.2008.05.003. Epub 2008 Jun 1.
- Georgiou M, Robson AG, Fujinami K, de Guimaraes TAC, Fujinami-Yokokawa Y, Daich Varela M, Pontikos N, Kalitzeos A, Mahroo OA, Webster AR, Michaelides M. Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes. Prog Retin Eye Res. 2024 May;100:101244. doi: 10.1016/j.preteyeres.2024.101244. Epub 2024 Jan 24.
- Hanein S, Perrault I, Gerber S, Tanguy G, Barbet F, Ducroq D, Calvas P, Dollfus H, Hamel C, Lopponen T, Munier F, Santos L, Shalev S, Zafeiriou D, Dufier JL, Munnich A, Rozet JM, Kaplan J. Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat. 2004 Apr;23(4):306-17. doi: 10.1002/humu.20010.
- Huang CH, Yang CM, Yang CH, Hou YC, Chen TC. Leber's Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations. Genes (Basel). 2021 Aug 19;12(8):1261. doi: 10.3390/genes12081261.
- Koenekoop RK, Cremers FP, den Hollander AI. Leber congenital amaurosis: ciliary proteins on the move. Ophthalmic Genet. 2007 Sep;28(3):111-2. doi: 10.1080/13816810701537457. No abstract available.
- Koenekoop RK. An overview of Leber congenital amaurosis: a model to understand human retinal development. Surv Ophthalmol. 2004 Jul-Aug;49(4):379-98. doi: 10.1016/j.survophthal.2004.04.003.
- Kumaran N, Moore AT, Weleber RG, Michaelides M. Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions. Br J Ophthalmol. 2017 Sep;101(9):1147-1154. doi: 10.1136/bjophthalmol-2016-309975. Epub 2017 Jul 8.
- Kumaran N, Pennesi ME, Yang P, Trzupek KM, Michaelides M. Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. 2018 Oct 4 [updated 2025 Dec 4]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK531510/
- Leroy BP, Birch DG, Duncan JL, Lam BL, Koenekoop RK, Porto FBO, Russell SR, Girach A. LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS-SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED: A Review. Retina. 2021 May 1;41(5):898-907. doi: 10.1097/IAE.0000000000003133.
- Maguire AM, Simonelli F, Pierce EA, Pugh EN Jr, Mingozzi F, Bennicelli J, Banfi S, Marshall KA, Testa F, Surace EM, Rossi S, Lyubarsky A, Arruda VR, Konkle B, Stone E, Sun J, Jacobs J, Dell'Osso L, Hertle R, Ma JX, Redmond TM, Zhu X, Hauck B, Zelenaia O, Shindler KS, Maguire MG, Wright JF, Volpe NJ, McDonnell JW, Auricchio A, High KA, Bennett J. Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Engl J Med. 2008 May 22;358(21):2240-8. doi: 10.1056/NEJMoa0802315. Epub 2008 Apr 27.
- Napier MP, Selvan K, Hayeems RZ, Shuman C, Chitayat D, Sutherland JE, Day MA, Heon E. Gene therapy: perspectives from young adults with Leber's congenital amaurosis. Eye (Lond). 2022 Nov;36(11):2088-2093. doi: 10.1038/s41433-021-01763-z. Epub 2021 Sep 16.
- Tsang SH, Sharma T. Leber Congenital Amaurosis. Adv Exp Med Biol. 2025;1467:143-149. doi: 10.1007/978-3-031-72230-1_26.
Participez à la conversation
Partagez vos pensées ou expériences avec les autres dans notre communautés de patients.
Demandez, partagez, connectez-vous.
Parcourez les discussions, posez des questions et partagez vos expériences sur des centaines de sujets de santé.
Inscrivez-vous à la newsletter Patient
Votre dose hebdomadaire de conseils de santé clairs et fiables - rédigés pour vous aider à vous sentir informé, confiant et maître de la situation.
En vous abonnant, vous acceptez notre Politique de confidentialité. Vous pouvez vous désabonner à tout moment. Nous ne vendons jamais vos données.