Retinitis Pigmentosa

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  • Definition of Nyctalopia
  • Causes of Nyctalopia
  • Symptoms and Signs of Nyctalopia
  • Diagnosis of Nyctalopia
  • Treatment of Nyctalopia

Definition of Nyctalopia

Nyctalopia is a hereditary retinal disorder that causes impaired vision in low-light conditions and a progressive narrowing of the visual field, which may lead to severe central vision loss in advanced stages. Depending on the gene affected by mutations, nyctalopia may be associated with additional symptoms such as hearing impairment, obesity, kidney dysfunction, and learning difficulties.

Causes of Nyctalopia

  • Genetic mutations in photoreceptor genes lead to dysfunction and degeneration of the affected cells.

    Consanguineous marriage between carriers of the genetic mutations increases the risk of transmitting the disease to offspring (25% if both parents carry the mutation).

    Currently unidentified factors influence the severity of symptoms and the rate of disease progression in affected individuals

Symptoms and Signs of Nyctalopia

  • Impaired vision in low-light conditions.
  • Progressive constriction of the visual field.
  • Visual impairment in advanced stages.
  • Difficulty recognizing faces from a distance.
  • Difficulty reading.
  • Delayed diagnosis if ophthalmic examination is performed without retinal imaging techniques.
  • In advanced cases, retinal pigmentation may be observed during fundoscopy.

Diagnosis of Nyctalopia

Nyctalopia is diagnosed through an ophthalmic examination and retinal imaging techniques.

Treatment of Nyctalopia

Management is primarily supportive and depends on the individual case.

  • Treatment is necessary for conditions requiring medical intervention, such as cataract removal or the use of visual aids.
  • Follow-up: Patients require regular monitoring, especially in cases needing medical intervention.
  • Clinical Trials: Ongoing clinical trials aim to treat certain common types of nyctalopia.
  • Gene Therapy: Currently, gene therapy is available for one type of nyctalopia caused by mutations in a specific gene.
  • Mechanism: Gene therapy involves subretinal injection of a functional copy of the affected gene.
  • Prevalence: Approximately 4% of nyctalopia cases in the Saudi population are linked to this specific gene.

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