Leber congenital amaurosis 14

General Information (adopted from Orphanet):

Synonyms, Signs: RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED, INCLUDED
LCA14 RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED, INCLUDED
Number of Symptoms 21
OrphanetNr:
OMIM Id: 613341
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT

Symptom Information: Sort by abundance 

1
(HPO:0000505) Visual impairment 297 / 7739
2
(HPO:0000510) Rod-cone dystrophy 266 / 7739
3
(HPO:0000639) Nystagmus 555 / 7739
4
(HPO:0007663) Reduced visual acuity 100 / 7739
5
(HPO:0000543) Optic disc pallor 67 / 7739
6
(HPO:0000613) Photophobia 158 / 7739
7
(HPO:0000550) Undetectable electroretinogram 25 / 7739
8
(HPO:0000654) Decreased light- and dark-adapted electroretinogram amplitude 17 / 7739
9
(HPO:0000662) Nyctalopia 92 / 7739
10
(HPO:0007875) Congenital blindness 9 / 7739
11
(HPO:0002527) Falls 10 / 7739
12
(HPO:0000980) Pallor 52 / 7739
13
(OMIM) Decreased or absent electroretinogram (ERG) responses 1 / 7739
14
(OMIM) Scant bone-spicule pigment (rare) 1 / 7739
15
(OMIM) Peripheral atrophy of retinal pigment epithelium 2 / 7739
16
(OMIM) Loss of central vision 1 / 7739
17
(OMIM) Visual field restriction 2 / 7739
18
(OMIM) Attenuated retinal arteries 1 / 7739
19
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
20
(OMIM) Poorly reactive pupils 1 / 7739
21
(OMIM) Perimacular retinal surface wrinkling (rare) 1 / 7739

Associated genes:

LRAT;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu ...
Clinical Description OMIM Thompson et al. (2001) studied 3 patients with early-onset severe retinal dystrophy. Two were female patients who had night blindness and poor vision in childhood and were diagnosed with retinitis pigmentosa (RP) at 2 years and 7 years of ...
Molecular genetics OMIM Thompson et al. (2001) screened 267 retinal dystrophy patients for mutations in the LRAT gene and identified a missense mutation in 2 patients (S175R; 604863.0001) and a 2-bp deletion (604863.0002) in another patient; all 3 patients had severe, early-onset ...