Search results (3 results)

Nov 29 2022 by Niloofar Piri, MD

Fundus autofluorescence of the left eye in a 58 yo male with rod cone dystrophy. He presented with night blindness and peripheral vision loss since youth and recent decrease in central vision for the past 10 years. Notice multiple coin shaped hypoautofluorescent pacthes within central 20 degrees which are coalescing centrally. (fundus photo uploaded separately) He has one pathogenic variants of both CEP290 and PRPH2 genes.

Photographer: Sean Kelso, Saint Louis University

Condition/keywords: hereditary retinal degeneration, hereditary retinal dystrophy, rod cone dystrophy

Sep 19 2022 by Kenneth Fong

34 year old male with colour blindness and loss of visual field

Condition/keywords: retinal dystrophy

Jun 27 2022 by Hanna Choi

37-year-old female with cone-rod dystrophy. Developed photophobia and progressive blurry vision in the third decade. VA 20/40 OD, 20/30 OS. The patient is compound heterozygous for pathogenic mutations in the CERKL gene (Arg465Trp and Arg283*).

Photographer: Kaitlynn Silva, New England Retina Consultants

Imaging device: Ultrawide-field Optos Fundus Photography, Autofluorescence, Fluorescein Angiography

Condition/keywords: cone dystrophy, inherited retinal disease, maculopathy