Format

Send to:

Choose Destination

Links from PubMed

Leber congenital amaurosis 1(LCA1)

MedGen UID:
419026
Concept ID:
C2931258
Disease or Syndrome
Synonyms: AMAUROSIS CONGENITA OF LEBER I; Congenital absence of the rods and cones; GUCY2D-Related Leber Congenital Amaurosis; LCA1; Leber congenital amaurosis type 1; Leber's congenital tapetoretinal degeneration; Leber's congenital tapetoretinal dysplasia; Retinal blindness, congenital
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: HPO
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
 
Gene (location): GUCY2D (17p13.1)
OMIM®: 204000

Disease characteristics

Excerpted from the GeneReview: Leber Congenital Amaurosis
Leber congenital amaurosis (LCA), a severe dystrophy of the retina, typically becomes evident in the first year of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia, and keratoconus. Visual acuity is rarely better than 20/400. A characteristic finding is Franceschetti's oculo-digital sign, comprising eye poking, pressing, and rubbing. The appearance of the fundus is extremely variable. While the retina may initially appear normal, a pigmentary retinopathy reminiscent of retinitis pigmentosa is frequently observed later in childhood. The electroretinogram (ERG) is characteristically "nondetectable" or severely subnormal. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Richard G Weleber  |  Peter J Francis  |  Karmen M Trzupek, et. al.   view full author information

Additional description

From GHR
Leber congenital amaurosis is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning in infancy. The visual impairment tends to be stable, although it may worsen very slowly 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. Additionally, the clear front covering of the eye (the cornea) may be cone-shaped and abnormally thin, a condition known as keratoconus. A specific behavior called 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. Researchers suspect that this behavior may contribute to deep-set eyes and keratoconus in affected children. In rare cases, delayed development and intellectual disability have been reported in people with the features of Leber congenital amaurosis. However, researchers are uncertain whether these individuals actually have Leber congenital amaurosis or another syndrome with similar signs and symptoms. At least 13 types of Leber congenital amaurosis have been described. The types are distinguished by their genetic cause, patterns of vision loss, and related eye abnormalities.  http://ghr.nlm.nih.gov/condition/leber-congenital-amaurosis

Clinical features

Growth delay
MedGen UID:
500905
Concept ID:
CN001379
Finding
A deficiency or slowing down of growth pre- and postnatally.
Hyperthreoninuria
MedGen UID:
436041
Concept ID:
C2673931
Finding
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Blindness
MedGen UID:
99138
Concept ID:
C0456909
Disease or Syndrome
The inability to see or the loss or absence of perception of visual stimuli. This condition may be the result of EYE DISEASES; OPTIC NERVE DISEASES; OPTIC CHIASM diseases; or BRAIN DISEASES affecting the VISUAL PATHWAYS or OCCIPITAL LOBE.
Cataract
MedGen UID:
368085
Concept ID:
C1962983
Finding
Nystagmus
MedGen UID:
409575
Concept ID:
C1963184
Finding
Fundus atrophy
MedGen UID:
382226
Concept ID:
C2673929
Finding
Keratoconus
MedGen UID:
504498
Concept ID:
CN000528
Finding
A cone-shaped deformity of the cornea.
Pigmentary retinopathy
MedGen UID:
504507
Concept ID:
CN000544
Finding
Photophobia
MedGen UID:
504524
Concept ID:
CN000575
Finding
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Decreased light- and dark-adapted electroretinogram amplitude
MedGen UID:
500892
Concept ID:
CN000615
Finding
Descreased amplitude of eletrical response upon electroretinography.
Sensorineural hearing impairment
MedGen UID:
504436
Concept ID:
CN000380
Finding
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Photophobia
MedGen UID:
504524
Concept ID:
CN000575
Finding
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Eye poking
MedGen UID:
504841
Concept ID:
CN001358
Finding
Repetitive pressing, poking, and/or rubbing in the eyes.
Hepatomegaly
MedGen UID:
505165
Concept ID:
CN002031
Finding
Abnormally increased size of the liver.
Threoninemia
MedGen UID:
336439
Concept ID:
C1848861
Finding
Hyperthreoninuria
MedGen UID:
436041
Concept ID:
C2673931
Finding

Recent clinical studies

Therapy

Boye SL, Peshenko IV, Huang WC, Min SH, McDoom I, Kay CN, Liu X, Dyka FM, Foster TC, Umino Y, Karan S, Jacobson SG, Baehr W, Dizhoor A, Hauswirth WW, Boye SE
Hum Gene Ther 2013 Feb;24(2):189-202. doi: 10.1089/hum.2012.193. PMID: 23210611Free PMC Article

Clinical prediction guides

Verrier JD, Madorsky I, Coggin WE, Geesey M, Hochman M, Walling E, Daroszewski D, Eccles KS, Ludlow R, Semple-Rowland SL
PLoS One 2011;6(5):e20553. Epub 2011 May 27 doi: 10.1371/journal.pone.0020553. PMID: 21647387Free PMC Article

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...