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 ... 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).
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 ... 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 fundus. Krill (1977) identified 4 classes: fundus albipunctatus (136880), inherited as either an autosomal dominant or autosomal recessive; fundus flavimaculatus (248200), inherited as an autosomal recessive; familial drusen (126700), inherited as an autosomal dominant and fleck retina of Kandori (228990), inherited as an autosomal recessive. In a consanguineous Arab Palestinian family, Sabel Aish and Dajani (1980) observed what they interpreted to be a fifth category, familial benign fleck retina, inherited as an autosomal recessive. Of 10 sibs, 3 girls and 4 boys were affected. The fundi were massively involved with lesions that appeared as discrete, bright white or yellow flecks situated behind the retinal vessels. The macula was always free. Fluorescein studies showed healthy macula and retinal and choroidal vessels. There was no night blindness or delay in dark adaptation. Isaacs et al. (1996) reported a case of flecked retinal dystrophy in a 12-year-old Australian girl, born of nonconsanguineous parents who were both of mixed aboriginal and Caucasian descent. The patient had widespread discrete yellow-white fleck lesions of the retinal pigment epithelium (RPE) bilaterally, extending to the far periphery but sparing the macular region. Her visual acuity was normal, and electroretinogram showed no abnormality. Fluorescein angiography revealed a mild, generalized irregular hypofluorescence that did not correspond to the fleck lesions, suggesting a diffuse abnormality of the retinal pigment epithelium. Her asymptomatic parents and sister had normal funduscopic examinations; an asymptomatic older brother refused examination. Isaacs et al. (1996) noted that this phenotype appeared to be similar to that described by Sabel Aish and Dajani (1980). Audo et al. (2007) diagnosed benign fleck retina in a 6-year-old Indian boy with consanguineous parents. Pattern and flash electroretinogram results were normal, as was best-corrected visual acuity. Fundus examination showed multiple white-yellow fish-tail-shaped lesions at the level of the RPE extending to the ora, with relative sparing of the foveal region. Increased autofluorescence imaging of the flecks suggested that the lesions correspond to an autofluorescent material that may be lipofuscin. Sergouniotis et al. (2011) studied a consanguineous South Asian family in which 3 sibs had benign fleck retina. The proband was a 10-year-old girl who was referred after an abnormal retinal appearance was noted on routine eye examination. There was no family history of retinal disease, and her visual acuity was normal. Funduscopy revealed multiple discrete polymorphous yellow-white flecks in the RPE bilaterally, in a symmetric pattern that spread peripherally beyond the major vascular arcades and spared the maculae. Examination of family members revealed similar findings in her 9-year-old sister and 7-year-old brother; an older sister and her parents had a normal retinal appearance. Full-field and pattern electroretinograms (ERGs) as well as electrooculograms (EOGs) were normal in the 3 affected sibs, confirming the diagnosis of benign fleck retina.
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 ... 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 segregated with disease in the family. Sequencing of PLA2G5 in 4 unrelated individuals with benign fleck retina, 2 of whom had previously been reported by Isaacs et al. (1996) and Audo et al. (2007), respectively, revealed homozygous or compound heterozygous mutations in 3 of the 4 affected individuals (601192.0001-601192.0005). None of the mutations were detected in a database of 224 control exomes from patients without a diagnosis of ophthalmic disease. Optical coherence tomography and fundus autofluorescence findings suggested that group V phospholipase A2 plays a role in phagocytosis of photoreceptor outer-segment discs by the retinal pigment epithelium.