Intraretinal cystoid spaces in a patient with retinitis pigmentosa due to mutation in the MAK gene

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Yu-Hung Lai1,2, Jenina E Capasso1, Richard Kaiser3

  • 1a Pediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital , Philadelphia , Pennsylvania , USA.

Ophthalmic Genetics
|February 20, 2016
PubMed
Abstract

Insights

This study identifies a novel mutation in the male germ cell-associated kinase (MAK) gene causing intraretinal cystoid spaces (ICS) in a patient with retinitis pigmentosa (RP). This finding links MAK gene mutations to ICS in RP patients.

Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Cystoid macular edema (CME) and non-leaking intraretinal cystoid spaces (ICS) are distinct retinal conditions.
  • Understanding the genetic basis of ICS is crucial for diagnosing and potentially treating retinal diseases.

Observation:

  • A 41-year-old male with retinitis pigmentosa (RP) presented with typical RP findings and cystoid changes in the fovea.
  • Optical coherence tomography revealed degenerated photoreceptors and cystoid changes without leakage on fluorescein angiography.
  • Genetic testing identified a homozygous 353-bp Alu insertion (K429insAlu) in the male germ cell-associated kinase (MAK) gene.

Findings:

  • The identified MAK gene mutation is the first reported cause of ICS in the context of RP.
  • MAK plays a role in microtubule stability and photoreceptor survival, suggesting its importance in retinal health.
  • ICS, previously seen in other ciliopathies, are now linked to MAK gene mutations.

Implications:

  • This discovery expands the known genetic causes of ICS and retinitis pigmentosa.
  • Further research into MAK's function may reveal new therapeutic targets for retinal degeneration.
  • This case highlights the importance of genetic testing in diagnosing complex retinal disorders.
Keywords:
CiliopathiesMAK genecystoid macular edemafluorescein angiographyintraretinal cystoid spacesretinitis pigmentosa

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