Presentation
RPE65-related Leber congenital amaurosis / early-onset severe retinal dystrophy (RPE65-LCA/EOSRD) is a severe inherited retinal degeneration (IRD) with a typical presentation between birth and age five years. [ncbi.nlm.nih.gov]
In most of the cases a marked nystagmus was present and photophobia was recorded in spite of the extremely poor visual function. [jamanetwork.com]
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 color. [medlineplus.gov]
Beacon Stories Sep 25, 2020 ProQR Announces Virtual Presentations at Scientific Conferences ProQR Therapeutics N.V. [fightingblindness.org]
Eyes
- Night Blindness
[from GeneReviews] Show allHide all Abnormality of the eye Absent foveal reflex Attenuation of retinal blood vessels Blindness Cataract Fundus atrophy Keratoconus Night blindness Nystagmus Optic disc pallor Pigmentary retinopathy Reduced visual acuity [ncbi.nlm.nih.gov]
In some of the lessaffected children a marked degree of night blindness was recorded. In the first months of life it was not possible to observe essential alterations in the fundus oculi. In a [jamanetwork.com]
Night blindness, congenital stationary, type 1G, 616389 GNAT2 Achromatopsia-4, 613856 GNB3 Night blindness, congenital stationary, type 1H, 617024 GNB3 {Hypertension, essential, susceptibility to}, 145500 GNPTG Mucolipidosis III gamma, 252605 GPR143 Nystagmus [qgenomics.com]
Neurologic
- Seizure
Febrile seizures, familial, 4 604352 GRK1 Oguchi disease-2, 613411 GRM6 Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 GRN Aphasia, primary progressive, 607485 GRN Ceroid lipofuscinosis, neuronal, 11 614706 GRN Frontotemporal [qgenomics.com]
Treatment
The treatment was also safe for patients. [fightingblindness.org]
Standard Therapies Treatment Treatment for LCA is symptomatic and supportive. Genetic counseling is recommended for families of affected children. In 2017, the gene therapy Luxturna (voretigene neparvovec-rzyl) was approved by the U.S. [rarediseases.org]
Prognosis
On the Cure Research News Oct 6, 2016 Embrace Your Exceptions: A Mantra for Understanding Retinal-Disease Inheritance The complex and elusive nature of these conditions can also extend to the way they are passed down in families, making diagnosis and prognosis [fightingblindness.org]
Prevention
Providing children with opportunities to play, hear, touch, understand and other early educational interventions may prevent developmental delays in children with Leber congenital amaurosis. [medlineplus.gov]
At the same time, it enables scientists to search the “de-identified” (i.e., anonymous) patient information to study conditions and identify targets for treatments, preventions and cures. [fightingblindness.org]