X-linked juvenile retinoschisis in females and response to carbonic anhydrase inhibitors

Case report and review of the literature

Syed Ali, Rajeev K Seth

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

A 63 year old woman was referred to the retina clinic after her vision failed to improve in her left eye after cataract surgery. X-linked retinoschisis was diagnosed in the patient after her retina exam revealed an area of retinoschisis and a foveal cyst.The OCT confirmed the macular cyst and the ERG showed loss of B waves.The florescein angiogram showed no significant perifoveal leakage. Her foveal cyst resolved after treatment with carbonic anhydrase inhibitors.The patient's son was examined and his ophthalmologic exam,ERG and imaging findings were consistent with X-linked retinoschisis. However, his bilateral foveal cysts did not respond to treatment with carbonic anhydrase inhibitors. X-linked retinoschisis is a very rare disease in women due to its X-linked recessive inheritance and the foveal cysts associated with it can respond to carbonic anhydrase inhibitors.

Original languageEnglish (US)
Pages (from-to)50-54
Number of pages5
JournalSeminars in Ophthalmology
Volume28
Issue number1
DOIs
StatePublished - Jan 2013

Fingerprint

Retinoschisis
Carbonic Anhydrase Inhibitors
Cysts
Retina
X-Linked Genes
Rare Diseases
Nuclear Family
Cataract
Angiography
Therapeutics

Keywords

  • Isodisomy
  • Maculopathy
  • Retinopexy
  • Retinoschisin
  • Retinoschisis

ASJC Scopus subject areas

  • Ophthalmology

Cite this

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abstract = "A 63 year old woman was referred to the retina clinic after her vision failed to improve in her left eye after cataract surgery. X-linked retinoschisis was diagnosed in the patient after her retina exam revealed an area of retinoschisis and a foveal cyst.The OCT confirmed the macular cyst and the ERG showed loss of B waves.The florescein angiogram showed no significant perifoveal leakage. Her foveal cyst resolved after treatment with carbonic anhydrase inhibitors.The patient's son was examined and his ophthalmologic exam,ERG and imaging findings were consistent with X-linked retinoschisis. However, his bilateral foveal cysts did not respond to treatment with carbonic anhydrase inhibitors. X-linked retinoschisis is a very rare disease in women due to its X-linked recessive inheritance and the foveal cysts associated with it can respond to carbonic anhydrase inhibitors.",
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