SNP Shot: Genomic Insights

Fundus albipunctatus is an eye condition impacting vision in dim lighting, leading to night blindness. A key feature is the presence of small, whitish-yellow spots (flecks) visible in the retina, the light-sensitive layer at the back of the eye (fundus), during an eye exam.

Those with fundus albipunctatus typically experience night blindness starting in childhood. A hallmark of the condition is delayed dark adaptation, making it difficult to adjust from bright light to darkness, for example, when entering a tunnel on a sunny day. This adaptation can take hours. However, daytime vision is usually unaffected.

The retinal flecks are most concentrated at the periphery (outer edges) of the retina. The number of flecks differs between individuals; some have many overlapping flecks, while others have fewer. Interestingly, the flecks may shrink or disappear with age in some people, but night vision remains impaired.

Fundus albipunctatus is generally a stable (non-progressive) condition. However, some individuals may develop other eye problems, including macular degeneration, which involves damage to the central part of the retina (macula) and loss of cone cells. This can impair vision in bright light.

Inheritance:

Fundus albipunctatus is inherited in an autosomal recessive manner. This means that a person must inherit two mutated copies of the responsible gene, one from each parent. The parents, who each carry only one mutated copy, are typically unaffected by the condition.