OMIM ID:
Fleck Retina, Benign Familial
Alternate Names
Defective Genes
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
Inheritance
This is an autosomal recessive disorder resulting from homozygous or compound heterozygous mutations in the PLA2G5 gene located at 1p36.13-p36.12.
Retinal flecks can be seen in a number of hereditary retinal syndromes (see FLecked Retina Syndromes).
Pedigree
Autosomal recessive
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.