Fundus albipunctatus

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 6
OrphanetNr: 227796
OMIM Id: 136880
ICD-10: H35.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Familial flecked retinopathy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000662) Nyctalopia 92 / 7739
2
 (HPO:0012045) Retinal flecks 6 / 7739
3
 (OMIM) Fleck retina disease 2 / 7739
4
 (OMIM) No macular involvement 2 / 7739
5
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
 (OMIM) Discrete uniform white dots over entire fundus 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) This form of fleck retina disease (see 228980) is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement. Night blindness occurs. Both autosomal dominant and autosomal recessive ...
Clinical Description OMIM Pearce et al. (1984) described retinitis punctata albescens in association with Bardet-Biedl syndrome (see 209900) in an isolated community in northern Canada.

Fishman et al. (2004) described autosomal recessive retinitis punctata albescens in 5 patients from ...
Molecular genetics OMIM Yamamoto et al. (1999) and Gonzalez-Fernandez et al. (1999) identified mutations in the RDH5 gene in patients with fundus albipunctatus (see 601617.0001-601617.0004).

Nakamura and Miyake (2002) reported fundus albipunctatus and a novel macular dystrophy in a ...