Leber Congenital Amaurosis Overview

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Learn About Leber Congenital Amaurosis

What is the definition of Leber Congenital Amaurosis?
Leber congenital amaurosis (LCA) is an eye disorder that primarily affects the retina. People with this condition typically have severe visual impairment beginning in infancy. Other features include photophobia, involuntary movements of the eyes (nystagmus), and extreme farsightedness. The pupils also do not react normally to light. Additionally, the cornea may be cone-shaped and abnormally thin (keratoconus). Franceschetti's oculo-digital sign is characteristic of Leber congenital amaurosis. This sign consists of poking, pressing, and rubbing the eyes with a knuckle or finger. Different subtypes have been described. The different subtypes are caused by genetic changes in different genes. Some of these subtypes are also distinguished by their patterns of vision loss and related eye abnormalities.
What are the alternative names for Leber Congenital Amaurosis?
  • Leber congenital amaurosis
  • Leber congenital amaurosis 1
  • Amaurosis congenita of Leber
  • Congenital absence of the rods and cones
  • Congenital retinal blindness
  • LCA
  • Leber's amaurosis
  • Leber's congenital tapetoretinal degeneration
  • Leber's congenital tapetoretinal dysplasia
  • Amaurosis congenita of Leber, type 1
  • CRB
  • LCA1
  • Leber congenital amaurosis type 1
  • Retinal blindness, congenital
Who are the top Leber Congenital Amaurosis Local Doctors?
Elite in Leber Congenital Amaurosis
Dr. Tomas S. Aleman
Ophthalmology
Elite in Leber Congenital Amaurosis
Dr. Tomas S. Aleman
Ophthalmology

Scheie Eye Institute Perelman

3400 Civic Center Boulevard, West Pavilion, 3rd Floor, 
Philadelphia, PA 
215-662-8100
Languages Spoken:
English
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Accepting New Patients

Tomas Aleman is an Ophthalmologist in Philadelphia, Pennsylvania. Dr. Aleman is rated as an Elite provider by MediFind in the treatment of Leber Congenital Amaurosis. His top areas of expertise are Choroideremia, Leber Congenital Amaurosis, Retinopathy Pigmentary Mental Retardation, and Cone-Rod Dystrophy. Dr. Aleman is currently accepting new patients.

Elite in Leber Congenital Amaurosis
Dr. Bart P. Leroy
Ophthalmology
Elite in Leber Congenital Amaurosis
Dr. Bart P. Leroy
Ophthalmology
34th & Civic Center Blvd, Children's Hospital Of Philadelphia, 
Philadelphia, PA 
215-590-2791
Languages Spoken:
English

Bart Leroy is an Ophthalmologist in Philadelphia, Pennsylvania. Dr. Leroy is rated as an Elite provider by MediFind in the treatment of Leber Congenital Amaurosis. His top areas of expertise are Leber Congenital Amaurosis, Retinopathy Pigmentary Mental Retardation, Late-Onset Retinal Degeneration, Vitrectomy, and Cataract Removal.

 
 
 
 
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Elite in Leber Congenital Amaurosis
Dr. Robert K. Koenekoop
Ophthalmology
Elite in Leber Congenital Amaurosis
Dr. Robert K. Koenekoop
Ophthalmology
6799 Collins Ave Apt 303, 
Miami Beach, FL 
438-402-9015
Languages Spoken:
English
See accepted insurances
Accepting New Patients
Offers Telehealth

Robert Koenekoop is an Ophthalmologist in Miami Beach, Florida. Dr. Koenekoop is rated as an Elite provider by MediFind in the treatment of Leber Congenital Amaurosis. His top areas of expertise are Leber Congenital Amaurosis, Retinitis Pigmentosa, Retinopathy Pigmentary Mental Retardation, and Late-Onset Retinal Degeneration. Dr. Koenekoop is currently accepting new patients.

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What are the latest Leber Congenital Amaurosis Clinical Trials?
A Double-Masked, Randomized, Placebo-Controlled, Paired-Eye Study to Evaluate the Efficacy, Safety and Tolerability of Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Due to the c.2991+1655A>G (p.Cys998X) Mutation in the CEP290 Gene
A Double-Masked, Randomized, Placebo-Controlled, Paired-Eye Study to Evaluate the Efficacy, Safety and Tolerability of Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Due to the c.2991+1655A>G (p.Cys998X) Mutation in the CEP290 Gene
Enrollment Status: Recruiting
Publish Date: October 09, 2025
Intervention Type: Other, Drug
Study Phase: Phase 3

Summary: The purpose of this double-masked, randomized, placebo-controlled, paired-eye study is to evaluate the efficacy, safety and tolerability of Sepofarsen in subjects with Leber Congenital Amaurosis (LCA) due to the c.2991+1655A\>G (p.Cys998X) mutation in the CEP290.

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Coordination of Rare Diseases at Sanford
Coordination of Rare Diseases at Sanford
Enrollment Status: Recruiting
Publish Date: May 29, 2025

Summary: CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, in...

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Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center