IllnessSpotted retina syndrome, differential diagnosis

NGS +

Fundus albipunctatus is a form of congenital stationary night blindness (CSNB) characterized by early onset in the presence of whitish-yellow spots in the retina. Notably, these patients have delayed dark adaptation; vision in bright light is usually normal. The spots are particularly common in the retinal periphery. Spot density varies among affected individuals; some affected individuals have numerous spots that overlap, while others show fewer. In some patients, the spots become smaller or fade with age, although night vision does not improve. Although fundus albipunctatus usually does not progress, some affecteds develop other eye diseases, such as macular degeneration. Fundus albipunctatus is mainly caused by RDH5 mutations. In some cases, fundus albipunctatus or especially CSNB is caused by mutations in other genes that play a role in the visual cycle. Fleck-retina is inherited in an autosomal recessive or dominant manner. Since the DNA diagnostic yield is not precisely known - also due to the often difficult clinical demarcations - a negative molecular genetic test result does not exclude the ophthalmological diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1245/

• Alias: Albipunctate retinal dystrophy
• Alias: Kandori fleck retina
• Alias: Lauber's disease
• Alias: Pigmentary retinal dystrophy
• Allelic: Hypotonia, obesity, prominent incisors (VPS13B)
• Allelic: Leber congenital amaurosis 14 (LRAT)
• Allelic: Macular dystrophy, vitelliform, 3; Retinitis pigmentosa 7 + digenic form (PRPH2)
• Allelic: Retinoschisis (RS1)
• Bothnia retinal dystrophy; Fundus albipunctatus (RLBP1)
• Choroidal dystrophy, central areolar 2; Leber congenital amaurosis 18 (PRPH2)
• Choroideraemia; Tapetochoroidal dystrophy, progressive (CHM)
• Cohen syndrome; Pepper syndrome (VPS13B)
• Doyne honeycomb degeneration of retina (EFEMP1)
• Fundus albipunctatus (RDH5)
• Macular dystrophy, patterned, 1; Retinitis punctata albescens (PRPH2)
• Newfoundland rod-cone dystrophy; Retinitis punctata albescens (RLBP1)
• Retinal dystrophy, early-onset severe (LRAT)
• Retinitis pigmentosa 4, AD/AR; Retinitis punctata albescens (RHO)
• Retinitis pigmentosa, juvenile (LRAT)