Familial benign flecked retina

General Information (adopted from Orphanet):

Synonyms, Signs: FRFB
Number of Symptoms 6
OrphanetNr: 363989
OMIM Id: 228980
ICD-10: H35.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Retinal dystrophy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0012045) Retinal flecks 6 / 7739
2
(OMIM) Multiple yellow ocular fundus lesions 1 / 7739
3
(OMIM) Fleck retina 2 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(OMIM) No night blindness 2 / 7739
6
(OMIM) Macula spared 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Familial benign fleck retina is an autosomal recessive condition associated with a distinctive retinal appearance and no apparent visual or electrophysiologic deficits. Affected individuals are asymptomatic, but fundus examination reveals a striking pattern of diffuse, yellow-white, fleck-like lesions ...
Clinical Description OMIM Fleck retina is a heterogeneous category with massive mosaic hyaline excrescences along the cuticular layer of Bruch membrane, leading to the appearance of multiple deep yellow to yellowish white lesions of variable size and shape in the ocular ...
Molecular genetics OMIM Using a combination of homozygosity mapping and exome sequencing in a consanguineous South Asian family in which 3 sibs had benign fleck retina, Sergouniotis et al. (2011) identified a homozygous missense mutation in the PLA2G5 gene (601192.0001) that ...