Retina and optic nerve
Leber congenital amaurosis
LCA
1:579 visual cues2 clinical photos
In this image
Each number marks an object in the image and the finding it stands for.
- BabyPresents in infancy
- Reeses cupAutosomal recessive inheritance
- Route 65RPE65 mutation
- Unused toysSevere vision loss at birth
- Eye rubbingOculodigital sign
- ShakingNystagmus
- PenlightNo constriction to light; Paradoxical pupillary response
- Fundus picturesInitially normal fundus; Progresses to an RP-like fundus
- Flat lineTotally extinguished ERG
- ReviewEvery marker, in order
Transcript
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Clinical image credits
Openly licensed photographs used in this lesson, with what was changed.
Neruban Kumaran, Anthony T. Moore, Richard G. Weleber, Michel Michaelides (2017). Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions.
Exact rectangular crop [1191, 0, 1772, 492] from 1772 × 492 publisher figure. Decoded RGB pixels preserved; no enhancement, arrows, retouching or upscaling.
Natsuki Higa, Takaaki Hayashi, Kei Mizobuchi, Maki Iwasa, Shingo Kubota, Kazuki Kuniyoshi, Shuhei Kameya, Hiroyuki Kondo, Mineo Kondo, Tadashi Nakano (2024). A novel RPE65 variant p.(Ala391Asp) in Leber congenital amaurosis: a case report and literature review in Japan.
Exact rectangular crop [0, 0, 1535, 1304] from 1535 × 1304 publisher figure. Decoded RGB pixels preserved; no enhancement, arrows, retouching or upscaling.
