Meyahealth
HomeGeneticsConditionsFundus albipunctatus
Back to Conditions
Fundus albipunctatus
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Conditions

Fundus albipunctatus

Fundus albipunctatus is a rare eye disorder characterized by night blindness and the presence of characteristic whitish-yellow flecks in the retina.

Overview

Individuals with fundus albipunctatus experience significant difficulty seeing in low-light conditions, a condition known as night blindness. This is primarily due to delayed dark adaptation, where the eyes struggle to adjust when moving from bright light to dark environments. While vision in bright light is typically normal, some individuals may develop secondary issues, such as the breakdown of the macula, which can affect daytime vision.

Symptoms

  • Night blindness: Impaired vision in low-light conditions from an early age.
  • Delayed dark adaptation: Difficulty adjusting to dark environments, which can take hours.
  • Retinal flecks: Whitish-yellow deposits in the retina, often most abundant near the periphery.
  • Macular changes: Potential for central retinal breakdown in some cases.

Causes & Risk Factors

The disorder is primarily caused by mutations in the RDH5 gene, which provides instructions for an enzyme involved in the visual cycle. This cycle is responsible for converting light into electrical signals interpreted by the brain. Specifically, the enzyme 11-cis retinol dehydrogenase 5 helps recycle 11-cis retinal, a form of vitamin A essential for vision. Mutations reduce or eliminate this enzyme's function, leading to a shortage of 11-cis retinal and the accumulation of molecules that form the characteristic retinal flecks.

Inheritance

Fundus albipunctatus is inherited in an autosomal recessive pattern. This means that both copies of the gene in each cell must contain mutations for the condition to manifest. Carriers (parents) typically do not show symptoms of the disorder.

Frequently Asked Questions

The RDH5 mutation impairs regeneration of 11‑cis retinal; high‑dose 9‑cis‑retinoid (e.g., 9‑cis‑β‑carotene) can bypass the block and temporarily boost the visual cycle, improving dark adaptation, but dosing must be guided by an ophthalmologist to avoid toxicity.
Fundus albipunctatus shows uniform, whitish‑yellow flecks sparing the macula early, with normal electroretinogram (ERG) after prolonged dark adaptation; retinitis pigmentosa typically has bone‑spicule pigment, attenuated ERG, and progressive peripheral field loss.
There is no proven therapy; regular monitoring with OCT and visual field testing is advised, and some clinicians trial low‑dose oral retinoids or vitamin A palmitate, but evidence is limited and side‑effects must be weighed.
Use bright, wide‑angle lighting when moving from light to dark, allow at least 30–60 minutes for full dark adaptation before tasks, wear sunglasses outdoors to reduce glare, and consider using a red‑filter headlamp for night activities to preserve rod sensitivity.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

Meyahealth

Ⓒ 2026. All rights reserved by MEYA

About UsTerms & PolicyFAQ