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RETINAL DYSTROPHIES AND SYNDROMES

Fundus Albipunctatus

Fundus Albipunctatus - Start  
Fundus Albipunctatus - End  

Fundus albipunctatus is a rare retinal dystrophy, inherited as an autosomal recessive disease, caused by mutations in gene RDH5, responsible for the retinal pigment epithelium (RPE) microsomal enzyme involved in photoreceptor transduction. It manifests in the first decade of life with nyctalopia and difficulty in adaptation to the dark after exposure to an intense light stimulus. Visual acuity and color vision are typically very good, though often not entirely normal.

Fundoscopy reveals yellow-white deep retinal dots located in the mid-peripheral retina, sparing the macula. These lesions are located at the level of the RPE and tend to increase in number and prominence with age. They are bilateral and symmetrical.

Differential Diagnosis

  • Benign retinal flecks
  • Bothnia and Newfoundland variants
  • Retinitis punctata albescens
  • Kandori retinopathy
 
Clinical Cases 5 0