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Fundus albipunctatus

Fundus albipunctatus



Overview

Fundus albipunctatus is a rare, inherited eye disorder causing stationary night blindness and small whitish-yellow retinal flecks, primarily linked to mutations in the [RDH5 gene] (https://medlineplus.gov/genetics/condition/fundus-albipunctatus/). It features delayed dark adaptation and normal daytime vision.

Symptoms

Primary Vision Symptoms

Night blindness: Trouble seeing clearly or moving around safely in dim light or at night, usually starting in early childhood.

Slow dark adaptation: Severe delay in adjusting vision when moving from bright sunlight into a dark space (like walking into a dark room or driving into a tunnel), which can take hours instead of minutes.

Normal bright light vision: Clear daytime visual acuity and normal side (peripheral) vision during standard conditions.

Physical Eye Findings

Retinal flecks: Countless tiny, round, white or yellowish-white spots scattered across the retina while sparing the central fovea region.

Fading spots: The whitish flecks may shrink or fade as a person gets older, though night vision does not improve

.Late-onset changes: Some older adults develop gradual cone cell loss or central macula breakdown, leading to reduced daytime sharpness over

Causes

RDH5 Gene Mutations: Accounts for the majority of cases; it codes for the 11-cis retinol dehydrogenase enzyme in the retinal pigment epithelium.

Enzyme Deficiency: Lacking normal enzyme function severely slows down how fast photoreceptor cells recover after being bleached by light.

Other Gene Associations: Rare variants in the RLBP1 or RPE65

Autosomal Recessive: A person must inherit one defective copy of the gene from each parent to develop the condition.Family History: Parents are typically healthy carriers without active symptoms of the disorder.

Diagnosis

Ophthalmoscopy / Fundus Exam: Shows many small, white-yellow dots spread across the retina while leaving the central part (fovea) clear.

Electroretinography (ERG): Standard tests show weak or missing rod cell signals, but tests done after hours of dark adaptation show normal or recovered electrical responses.

Optical Coherence Tomography (OCT): Reveals bright spots in the outer layers of the retina.Genetic Testing: Identifies changes or mutations in the RDH5 gene, which confirms the condition.

Treatment

Beta-Carotene: Clinical studies show that high oral doses of 9-cis-beta-carotene can improve night vision and speed up rod recovery rates in the retina.

Vitamin A: General supplementation is sometimes discussed to support overall retinal health, though high doses should be supervised by a specialist.

Low Vision Aids: Magnifiers or special lenses help maximize remaining functional vision.UV Protection: Wearing sunglasses outdoors protects light-sensitive retinal cells from extra stress.Regular Eye Exams: Routine check-ups track any changes in your vision over time.

Type of Doctor Department : An ophthalmologist

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