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CRX-linked macular dystrophy with intrafamilial variable expressivity.

Khaled Romdhane1, Veronika Vaclavik1, Daniel F Schorderet1,2,3

  • 1a Jules-Gonin Eye Hospital, Department of Ophthalmology , University of Lausanne , Lausanne , Switzerland.

Ophthalmic Genetics
|August 2, 2018
PubMed
Summary
This summary is machine-generated.

A CRX gene mutation causes variable macular dystrophy within a family. This genetic defect leads to differing disease severity, impacting central vision and color perception.

Keywords:
CRXmacular dystrophymutationvariable expressivity

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Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Cone-rod dystrophies and macular dystrophies are inherited retinal diseases.
  • The CRX (Cone-Rod Homeobox) gene plays a crucial role in photoreceptor development and function.
  • Mutations in CRX are associated with various retinal disorders, including Leber congenital amaurosis and cone-rod dystrophy.

Observation:

  • A 21-year-old male presented with reduced visual acuity and dyschromatopsia.
  • Clinical findings included posterior pole atrophy and a hyperautofluorescent paramacular ring on autofluorescence imaging.
  • A heterozygous nonsense mutation (c.313C>T, p.Q105*) in the CRX gene was identified.

Findings:

  • The identified CRX mutation was present in the patient's father and uncle.
  • Intrafamilial variable expressivity of the CRX mutation was observed, with differing disease severity among affected family members.
  • This suggests that genetic modifiers or environmental factors may influence the phenotype.

Implications:

  • This case highlights the importance of genetic testing in diagnosing inherited macular dystrophies.
  • Understanding the variable expressivity of CRX mutations can aid in predicting disease progression and patient counseling.
  • Further research into the molecular mechanisms underlying CRX-associated retinal diseases is warranted.