Congenital blindness due to retinal non-attachment

General Information (adopted from Orphanet):

Synonyms, Signs: RETINAL DETACHMENT, CONGENITAL
NCRNA
RNANC
Congenital retinal detachment
Non-syndromic congenital retinal non-attachment
NCRNA disease
Number of Symptoms 23
OrphanetNr: 300337
OMIM Id: 221900
ICD-10: H33.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic vitreous-retinal disease
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000568) Microphthalmia 183 / 7739
2
 (HPO:0000555) Leukocoria 5 / 7739
3
 (HPO:0000594) Shallow anterior chamber 8 / 7739
4
 (HPO:0007968) Remnants of the hyaloid vascular system 5 / 7739
5
 (HPO:0000667) Phthisis bulbi 4 / 7739
6
 (HPO:0000612) Iris coloboma rare [HPO:skoehler] 116 / 7739
7
 (HPO:0000482) Microcornea 102 / 7739
8
 (HPO:0000565) Esotropia 58 / 7739
9
 (HPO:0012043) Pendular nystagmus 11 / 7739
10
 (HPO:0000554) Uveitis rare [HPO:skoehler] 10 / 7739
11
 (HPO:0007899) Retinal nonattachment 10 / 7739
12
 (HPO:0011886) Hyphema 1 / 7739
13
 (HPO:0011484) Posterior synechiae of the anterior chamber 5 / 7739
14
 (HPO:0008052) Retinal fold 4 / 7739
15
 (HPO:0009917) Persistent pupillary membrane 6 / 7739
16
 (HPO:0000557) Buphthalmos 16 / 7739
17
 (HPO:0000518) Cataract 454 / 7739
18
 (HPO:0007957) Corneal opacity 84 / 7739
19
 (OMIM) Retinal nonattachment, congenital 1 / 7739
20
 (OMIM) Bilateral total insensitivity to light 1 / 7739
21
 (OMIM) Retrolental mass, large 1 / 7739
22
 (OMIM) Absent or greatly attenuated optic nerves and chiasm 1 / 7739
23
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Retinal nonattachment is a more appropriate description than detachment. Its occurrence with falciform folds (falciform detachment; see 180070) in the same family indicates that the 2 phenotypes are basically the same (Warburg, 1976).

Congenital retinal nonattachment ...
Clinical Description OMIM Ghiasvand et al. (1998) found a prevalence of congenital total blindness of 1.1% in an isolated and founding Iranian population. Clinical findings including lack of perception of light, massive retrolental mass, shallow anterior chamber, and nystagmus in otherwise ...
Molecular genetics OMIM In an Iranian family with nonsyndromic congenital retinal nonattachment mapping to chromosome 10q21, originally reported by Ghiasvand et al. (1998), Ghiasvand et al. (2011) analyzed 14 genes within the critical interval, including ATOH7 (609875), but did not find ...