Fleck Retina, Benign Familial

Clinical Characteristics

Ocular Features:

The appearance of the retina is said to be distinctive. Bright, discrete yellow-white dots or fish-tail flecks are seen extending from the parafoveal region to the periphery where they may be larger and more confluent. The central macula is spared. The flecks autofluoresce and fluorescein angiography reveals mild irregular hyperfluorescence. These have been described in multiple asymptomatic patients during the first decade of life and might be congenital in origin. Photopic and scotopic vision remains normal and no ERG or EOG abnormalities can be recorded. The retinal pigment epithelium and vasculature are normal.

Systemic Features:

No systemic disease is present.

Genetics

This is an autosomal recessive disorder resulting from homozygous or compound heterozygous mutations in the PLA2G5 [1] gene located at 1p36.13-p36.12.

Retinal flecks can be seen in a number of hereditary retinal syndromes (see FLecked Retina Syndromes [2]).

Treatment

Treatment Options:

No treatment is necessary.

References

Article Title:

Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina [3]

Sergouniotis PI, Davidson AE, Mackay DS, Lenassi E, Li Z, Robson AG, Yang X, Kam JH, Isaacs TW, Holder GE, Jeffery G, Beck JA, Moore AT, Plagnol V, Webster AR. Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina. Am J Hum Genet. 2011 Dec 9;89(6):782-91.

PubMed ID:

22137173

Flecked-retina syndromes [4]

Walia S, Fishman GA, Kapur R. Flecked-retina syndromes. Ophthalmic Genet. 2009 Jun;30(2):69-75..

PubMed ID:

19373677

Autofluorescence imaging in a case of benign familial fleck retina [5]

Audo I, Tsang SH, Fu AD, Barnes JA, Holder GE, Moore AT. Autofluorescence imaging in a case of benign familial fleck retina. Arch Ophthalmol. 2007 May;125(5):714-5.

PubMed ID:

17502520