Goldmann-Favre syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: FAVRE HYALOIDEORETINAL DEGENERATION, INCLUDED
ESCS GOLDMANN-FAVRE SYNDROME, INCLUDED
RETINOSCHISIS WITH EARLY HEMERALOPIA, INCLUDED
Retinoschisis with early nyctalopia
Enhanced S-cone syndrome
Number of Symptoms 17
OrphanetNr: 53540
OMIM Id: 268100
ICD-10: H35.5
UMLs: C0339541
MeSH:
MedDRA:
Snomed: 232065000

Prevalence, inheritance and age of onset:

Prevalence: < 50 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
Adolescent
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Unclassified primitive or secondary maculopathy
 -Rare eye disease
 -Rare genetic disease
Vitreoretinal degeneration
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0007808) Bilateral retinal coloboma 4 / 7739
2
 (HPO:0001146) Pigmentary retinal degeneration 15 / 7739
3
 (HPO:0000518) Cataract 454 / 7739
4
 (HPO:0000655) Vitreoretinal degeneration 8 / 7739
5
 (HPO:0000550) Undetectable electroretinogram 25 / 7739
6
 (HPO:0000662) Nyctalopia 92 / 7739
7
 (HPO:0000611) Choroid coloboma 12 / 7739
8
 (HPO:0012047) Hemeralopia 7 / 7739
9
 (HPO:0000480) Retinal coloboma 16 / 7739
10
 (HPO:0000567) Chorioretinal coloboma 26 / 7739
11
 (HPO:0030502) Retinoschisis 3 / 7739
12
 (OMIM) Macular edema 6 / 7739
13
 (HPO:0040049) Macular edema 5 / 7739
14
 (OMIM) Preretinal band-shaped structures (veil) 1 / 7739
15
 (OMIM) Hyaloideoretinal degeneration 1 / 7739
16
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
17
 (OMIM) Liquefied vitreous body 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hereditary human retinal degenerative diseases usually affect the mature photoreceptor topography by reducing the number of cells through apoptosis, resulting in loss of visual function. Only one inherited retinal disease, the enhanced S-cone syndrome (ESCS), manifests a gain ...
Molecular genetics OMIM In a group of ESCS probands, Haider et al. (2000) found mutations in the NR2E3 gene (see, e.g., 604485.0001-604485.0004), also known as PNR, which encodes a retinal nuclear receptor found by Kobayashi et al. (1999) to be a ...