Leber Congenital Amaurosis
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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
Referral may be required

Scheie Eye Institute Perelman

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

Tomas Aleman is an Ophthalmologist practicing medicine in Philadelphia, Pennsylvania. Dr. Aleman is rated as an Elite provider by MediFind in the treatment of Leber Congenital Amaurosis. He is also highly rated in 27 other conditions, according to our data. His clinical expertise encompasses Choroideremia, Leber Congenital Amaurosis, Retinopathy Pigmentary Mental Retardation, and Cone-Rod Dystrophy. Dr. Aleman is board certified in Ophthalmology, 2019. Dr. Aleman is currently accepting new patients.

Elite in Leber Congenital Amaurosis
Dr. Albert M. Maguire
Ophthalmology
Elite in Leber Congenital Amaurosis
Dr. Albert M. Maguire
Ophthalmology
Referral may be required

Scheie Eye Institute Perelman

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

Albert Maguire is an Ophthalmologist practicing medicine in Philadelphia, Pennsylvania. Dr. Maguire is rated as an Elite provider by MediFind in the treatment of Leber Congenital Amaurosis. He is also highly rated in 41 other conditions, according to our data. His clinical expertise encompasses Leber Congenital Amaurosis, Choroideremia, Late-Onset Retinal Degeneration, Age-Related Macular Degeneration (ARMD), and Vitrectomy. Dr. Maguire is board certified in Ophthalmology, 1991. Dr. Maguire is currently accepting new patients.

 
 
 
 
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Elite in Leber Congenital Amaurosis
Dr. Katherine E. Uyhazi
Ophthalmology
Elite in Leber Congenital Amaurosis
Dr. Katherine E. Uyhazi
Ophthalmology
Referral may be required

Scheie Eye Institute Perelman

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

Katherine Uyhazi is an Ophthalmologist practicing medicine in Philadelphia, Pennsylvania. Dr. Uyhazi is rated as an Elite provider by MediFind in the treatment of Leber Congenital Amaurosis. She is also highly rated in 13 other conditions, according to our data. Her clinical expertise encompasses Leber Congenital Amaurosis, Sorsby Fundus Dystrophy, Choroideremia, and Cone-Rod Dystrophy. Dr. Uyhazi is board certified in Ophthalmology, 2019. Dr. Uyhazi 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: June 03, 2026
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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Foundation Fighting Blindness My Retina Tracker Registry
Foundation Fighting Blindness My Retina Tracker Registry
Enrollment Status: Recruiting
Publish Date: May 19, 2026

Summary: The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation. It is a patient-initiated registry accessible via a secure on-line portal at www.MyRetinaTracker.org. Affected individuals who register are guided to create a profile that captures their perspective on the...

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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