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Rod Monochromatism (Achromatopsia).

Stephen H Tsang1,2, Tarun Sharma3

  • 1Jonas Children's Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.

Advances in Experimental Medicine and Biology
|December 23, 2018
PubMed
Summary
This summary is machine-generated.

Rod monochromatism, or achromatopsia, is a rare genetic disorder where individuals lack cone photoreceptor function, seeing only in shades of gray. This condition typically presents in infancy with vision impairment and light sensitivity.

Keywords:
AchromatopsiaAutosomal recessiveRod monochromatism

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Area of Science:

  • Ophthalmology
  • Genetics
  • Vision Science

Background:

  • Rod monochromatism (achromatopsia) is a rare congenital cone photoreceptor disorder affecting approximately 1 in 30,000 individuals.
  • Patients exhibit normal rod function but absent cone function, resulting in total color blindness (seeing in shades of gray).
  • The condition typically manifests in infancy with symptoms like nystagmus, photophobia, and significantly reduced visual acuity (20/200 or worse).

Purpose of the Study:

  • To describe the clinical characteristics and prevalence of rod monochromatism.
  • To differentiate between complete and incomplete forms of achromatopsia.
  • To highlight specific population occurrences, such as in the Pingelapese islanders.

Main Methods:

  • Clinical observation and patient presentation analysis.
  • Ophthalmic examination including visual acuity assessment.
  • Review of genetic and epidemiological data for achromatopsia.

Main Results:

  • Patients present with normal rod function and no cone function, leading to achromatopsia.
  • Visual acuity is typically poor (20/200 or worse), with hyperopic refractive error and sometimes paradoxical pupillary responses.
  • Fundus examination may reveal normal findings or macular pigmentary/atrophic changes; incomplete achromatopsia shows some residual cone function and limited color vision.
  • Complete achromatopsia is notably prevalent in the Pingelapese population (4-10%).

Conclusions:

  • Rod monochromatism is a severe cone disorder characterized by total color blindness and significant visual impairment.
  • Incomplete achromatopsia represents a milder variant with partial color discrimination.
  • The high prevalence in specific isolated populations underscores potential genetic factors.