These disorders are sometimes grouped into the category of 'flecked retina disease'.
Autosomal dominant inheritance is typical for fundus albipunctatus (136880) resulting from mutations in the RDS (PRPH2) gene (6p21.1-cen).
Autosomal recessive fundus albipunctatus (136880) is caused by mutations in RDH5 (12q13-q14) and sometimes in RLBP1 (15q26.1).
Retinitis punctata albescens (136880) and fundus albipunctatus (136880) may both be caused by mutations in RLBP1 (15q26.1). In a consanguineous family in which younger individuals (aged 3-20 years) had signs of fundus albipunctatis, older individuals in the fourth and fifth decades of life had features of retinitis punctata albescens (136880). Homozygous mutations in RLBP1 were found in all individuals. Homozygous mutations in the same gene are also responsible for Bothnia type retinal dystrophy (607475) and for the Newfoundland type of retinal dystrophy (607476).
Familial Benign Fleck Retina (228980) is characterized by a normal ERG and normal vision. The macula is spared from the white/yellow flecks located behind retinal vessels. Autofluorescence is present and the fluorescein angiogram shows irregular hypofluorescence. Nothing is known about the mutation but the clinical condition is inherited in an autosomal recessive pattern.
Some group Stargardt disease (248200), fleck retina of Kandori (228990), juvenile retinoschisis (312700), and familial benign fleck retina (228980) as well into the category of 'flecked retina disease'.
Other disorders in which retinal flecks may be seen are: spastic paraplegia 15 (270700), hyperoxaluria (259900), Alport syndrome (301050), Bietti-crystalline-corneoretinal-dystrophy (210370 ), Sjogren-Larsson syndrome (270200), pantothenate kinase-associated neurodegeneration (234200), Leber congenital amaurosis (204000), and Bardet-Biedl syndrome (209900),