A 26-year-old female patient came for a regular ophthalmic examination. Her visual acuity was 6/6 in both eyes and anterior segment examination was within normal limits.
Fundus examination revealed multiple discrete yellow-white flecked lesions involving the entire fundus of both eyes and sparing the macula in both eyes [Figure 1a and b]. She had no complaints of night blindness. There was no history of consanguineous marriage between the parents. Examination of her parents and her younger sister did not reveal any abnormalities.
Figure 1.
(a and b) Fundus of the right and left eye respectively showing multiple discrete yellow-white flecked lesions involving the entire fundus and sparing the fovea. (c and d) Optical coherence tomography of the right and left eye shows discrete deposit accumulation posterior to the photoreceptors' inner segment/outer segment junction (arrows) without disrupting it
Optical coherence tomography in both eyes revealed a normal macula and discrete deposit accumulation posterior to the photoreceptors' inner segment/outer segment junction (arrows) without disrupting it and also sparing the fovea [Figure 1c and d].
Full-field and pattern electroretinogram as well as electrooculogram in both eyes did not reveal any abnormalities.
A diagnosis of benign fleck retina was made.
Benign familial fleck retina (BFFR) belongs to a heterogeneous group of so-called flecked retina syndromes and should be considered in patients with yellowish-white retinal lesions without the involvement of the macula. It is a rare autosomal recessive condition. Sporadic cases are even more uncommon.
It was first described by Sabel Aish and Dajani in 1980 in a family where 7 out of 10 siblings showed the presence of flecks involving the whole fundus except the disc and macula with no visual disturbances.[1]
Recessive mutations in the gene encoding group V phospholipase A2 (PLA2G5) are said to be associated with this condition.[2]
Some individuals can also have mildly elevated low-density lipoprotein and total cholesterol levels which were not found in our patient.[3]
Other flecked retinal disorders include conditions such as fundus albipunctatus, fundus flavimaculatus, familial drusen, retinitis punctata albescens, and fleck retina of Kandori. These disorders can be associated with night blindness, central visual problems, abnormal ERG, and abnormal perimetry. In contrast, the ERG is normal in BFFR, and the patient has no symptoms.[4]
It is important to differentiate BFFR from these disorders to educate the patient about their visual prognosis.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given her consent for images and other clinical information to be reported in the journal. The guardian understands that her names and initials will not be published and due efforts will be made to conceal the patient's identity, but anonymity cannot be guaranteed.
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Conflicts of interest
There are no conflicts of interest.
References
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