Leber congenital amaurosis 15

General Information (adopted from Orphanet):

Synonyms, Signs: LCA15 RETINITIS PIGMENTOSA, JUVENILE, TULP1-RELATED, INCLUDED
Number of Symptoms 31
OrphanetNr:
OMIM Id: 613843
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:0008499) High-grade hypermetropia 14 / 7739
4
(HPO:0000545) Myopia 286 / 7739
5
(HPO:0000639) Nystagmus 555 / 7739
6
(HPO:0000546) Retinal degeneration 61 / 7739
7
(HPO:0000551) Abnormality of color vision 20 / 7739
8
(HPO:0000543) Optic disc pallor 67 / 7739
9
(HPO:0000580) Pigmentary retinopathy 49 / 7739
10
(HPO:0000662) Nyctalopia 92 / 7739
11
(HPO:0007772) Impaired smooth pursuit 21 / 7739
12
(HPO:0006934) Congenital nystagmus 10 / 7739
13
(HPO:0000540) Hypermetropia rare [HPO:skoehler] 99 / 7739
14
(HPO:0001133) Constriction of peripheral visual field 33 / 7739
15
(OMIM) Maculopathy, marked (in older patients) 1 / 7739
16
(OMIM) Color vision disturbed 1 / 7739
17
(OMIM) Vision loss, progressive, during childhood or adolescence 1 / 7739
18
(OMIM) Visual acuity ranging from perception of light to 20/100 1 / 7739
19
(OMIM) Ocular pursuit poor or absent 1 / 7739
20
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
21
(OMIM) Electroretinograms unrecordable at birth or in infancy 1 / 7739
22
(OMIM) Foveolar reflex indistinct 1 / 7739
23
(OMIM) Fundus examination normal at birth 1 / 7739
24
(OMIM) Retinal vessel attenuation 2 / 7739
25
(OMIM) Poor vision at birth 1 / 7739
26
(HPO:0030211) Slow pupillary light response 2 / 7739
27
(OMIM) Visual fields moderately to severely restricted 1 / 7739
28
(OMIM) Pigment retinopathy (in all but youngest patients) 1 / 7739
29
(OMIM) Pupillary reflex sluggish 1 / 7739
30
(OMIM) Peripapillary retinal pigment epithelium atrophy (in older patients) 1 / 7739
31
(OMIM) Oculodigital sign of Franceschetti 1 / 7739

Associated genes:

TULP1;

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 (summary ...
Clinical Description OMIM Hanein et al. (2004) studied 179 unrelated patients fulfilling strict inclusion criteria for diagnosis of LCA, including congenital nystagmus, no or very poor ocular pursuit, oculodigital sign of Franceschetti (repetitive eye-rubbing in infancy, attesting to profoundly impaired vision), and ...
Molecular genetics OMIM In 179 unrelated patients diagnosed with Leber congenital amaurosis (LCA), Hanein et al. (2004) analyzed 7 known LCA genes and identified homozygous or compound heterozygous mutations in the TULP1 gene in 3 probands (602280.0004 and 602280.0010-602280.0012, respectively).

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