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Synapse
May 2, 2026Russian Annals of Ophthalmology0 citations

Clinical case of an inherited retinal disease with late manifestation

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KAKh Kh AltemirovaIRI A RonzinaAPA A Plyukhova

Key Points

  • The aim is to demonstrate effective diagnosis methods for late-onset rod-cone dystrophy, often overlooked in patients.
  • Presented a clinical case of late-onset RCD.
  • Utilized thorough medical history and active identification of symptoms.
  • Employed modern functional and structural retinal imaging techniques for diagnosis.
  • Successfully diagnosed late-onset RCD that was not evident through standard examinations.
  • Showed that active symptom identification and advanced imaging are crucial for timely diagnosis.
  • Highlighted the challenge of typical IRD complaints remaining unreported by patients.

Abstract

Rod-cone dystrophy (RCD) is one of the forms of inherited retinal diseases (IRDs) caused by photoreceptor degeneration and leading to significant loss of visual function. In some cases, patients with late-onset RCD do not independently report complaints typical of IRDs, and standard and additional ophthalmological examinations performed using conventional methods fail to reveal pathological changes, which complicates and delays diagnosis. This article presents a case of late-onset RCD diagnosed through the active identification of characteristic complaints, thorough medical history taking, and targeted use of modern functional and structural retinal imaging techniques with an extended visualization range.

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Cite This Study

Altemirova et al. (2026) studied this question.

synapsesocial.com/papers/69f593f271405d493affec65https://doi.org/10.17116/oftalma202614202150
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  5. 5A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice2023 · 49 citations