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Rod-cone dystrophy with myriad systemic manifestations

Goudappa Patil1, Premika Pandarasamy1, N V S Krishna Reddy2

  • 1Department of Ophthalmology, All India Institute of Medical Sciences, Mangalagiri, Andhra Pradesh, India.

Oman Journal of Ophthalmology
|July 28, 2026
PubMed

Insights

This case study details a 26-year-old male with rod-cone dystrophy (RCD) and multiple systemic issues. Genetic testing revealed an ABCA4 mutation, suggesting a blended phenotype of retinal and systemic disease.

Area of Science:

  • Ophthalmology
  • Genetics
  • Endocrinology

Background:

  • Rod-cone dystrophy (RCD) is an inherited retinal disorder affecting photoreceptors.
  • Patients often present with progressive vision loss and characteristic retinal findings.
  • Systemic manifestations are less commonly associated with RCD.

Keywords:
Atrial septal defecthypogonadismrod-cone dystrophysyndrome

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