ArticleThe British journal of ophthalmology2004
Pingelapese achromatopsia: correlation between paradoxical pupillary response and clinical features.
Article in The British journal of ophthalmology, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Expanding the genetic spectrum of achromatopsia: novel CNGA3 and CNGB3 variants.International ophthalmology · 2025Article
- Genetic phenotypic characteristics and inheritance patterns of patients with achromatopsia at a large academic institution and a review of the literature and gene therapies.Molecular vision · 2025Review
- Gene Therapy for Achromatopsia.International journal of molecular sciences · 2024Review
- Achromatopsia: Long term visual performance and clinical characteristics.European journal of ophthalmology · 2024Article
- The cone dysfunction syndromes.The British journal of ophthalmology · 2016Review
- A 19-month-old girl with nystagmus, paradoxical pupillary response and low vision.Digital journal of ophthalmology : DJO · 2008Article
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimTo evaluate the paradoxical pupillary constriction in darkness in patients with Pingelapese achromatopsia (PA), and to describe a connection between this phenomenon and the clinical features.
methods27 patients with PA were examined. All underwent a full ophthalmic examination which included Snellen visual acuity and ophthalmoscopy. Colour vision examination was performed with Ishihara pseudoisochromatic plates and also with a colour plate consisting of five basic colours (red, green, purple, yellow, and orange). Paradoxical pupillary response was examined and documented with a special infrared video camera. Pupils' images were analysed using the Scion Image program and the ratio of pupil size in darkness to its size in light was calculated and recorded.
resultsMean visual acuity was 20/400 (range 20/80-20/800). Colour vision examination showed a mean of 3.2 (SD 1.5) (range 1-5) of Ishihara colour plates, and 0.5 (0.75) (0-3) of basic colour plates. 23 patients (85%) had paradoxical pupillary constriction in darkness. Mean dark/light ratio of pupillary area was 0.86 (range 0.5-1.6). In patients with marked paradoxical pupillary constriction there was a significant correlation of visual acuity and Ishihara score.
conclusionsClinical manifestations of achromatopsia include total colour blindness, low visual acuity (mean of 20/400), horizontal pendular or rotatory nystagmus, and photophobia. Most patients have paradoxical pupillary constriction in darkness. When this response is brisk it seems to correlate with lower visual acuity and lower Ishihara score.
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