X

Fundus albipunctatus | Ricardo Leitão Guerra, MD

65yo

Fundus albipunctatus, caused by the RDH5 gene variant c.592del (p.Ile198Tyrfs*15), such as this case, is a rare form of congenital stationary night blindness characterized by white dots in the fundus, with symptoms typically improving over time. This autosomal recessive disorder impacts visual adaptation to darkness due to retinol dehydrogenase deficiency.

#retina #oftalmo #ophthalmology #oftalmologia #oftalmología #ophtalmologie #офтальмологія #офтальмология #οφθαλμολογία #retinography2024 #CLARUS700 #ZEISSRETINAWORKFLOW