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Familial benign flecked retina(FRFB)

MedGen UID:
341605
Concept ID:
C1856718
Disease or Syndrome
Synonym: Fleck retina, familial benign
SNOMED CT: Familial benign flecked retina (770434009)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): PLA2G5 (1p36.13)
 
Monarch Initiative: MONDO:0009235
OMIM®: 228980
Orphanet: ORPHA363989

Definition

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 extending to the far periphery of the retina but sparing the foveal region (summary by Sergouniotis et al., 2011). [from OMIM]

Clinical features

From HPO
Night blindness
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.
Retinal flecks
MedGen UID:
602327
Concept ID:
C0423414
Finding
Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.

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