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Cataract in pseudohypoparathyroidism.

Rafael S Grajewski1, Konrad R Koch1, Hans-Reinhard Koch1

  • 1From the Department of Ophthalmology (Grajewski, K.R. Koch, Ciotu, Cursiefen, Heindl), University of Cologne, Cologne, and the Hochkreuzklinik Eye Hospital (H.-R. Koch), Bonn, Germany; the Department of Ophthalmology (Ciotu), University Emergency Hospital of Bucharest, Romania.

Journal of Cataract and Refractive Surgery
|August 6, 2016
PubMed
Summary
This summary is machine-generated.

This case study highlights how early visual disturbances like photopsia can signal underlying systemic conditions. Early detection of ocular signs may lead to diagnosing rare genetic disorders like pseudohypoparathyroidism.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Neurology

Background:

  • Pseudohypoparathyroidism is a rare genetic disorder characterized by resistance to parathyroid hormone.
  • Ocular manifestations are infrequently reported in pseudohypoparathyroidism.

Observation:

  • A 22-year-old male presented with a 3-year history of photopsia (visual disturbances) despite normal visual acuity.
  • Ophthalmic examination revealed bilateral, irregular white cortical lens opacifications.
  • The patient later developed seizures and was diagnosed with extensive brain calcification, indicative of pseudohypoparathyroidism.

Findings:

  • The case demonstrates a correlation between subtle ocular findings (cortical opacifications) and a rare systemic disease (pseudohypoparathyroidism).
  • Photopsia and lens opacities can be early, albeit uncommon, signs of this genetic disorder.

Implications:

  • Ophthalmologists and cataract surgeons should consider pseudohypoparathyroidism in patients presenting with unexplained visual symptoms and lens changes.
  • Early recognition of these ocular signs can facilitate timely diagnosis and management of pseudohypoparathyroidism, preventing neurological complications.
  • This case underscores the importance of a comprehensive diagnostic approach, integrating ophthalmological findings with potential systemic pathologies.