Journal of Ophthalmic and Vision Research
ISSN: 2008-322X
The latest research in clinical ophthalmology and the science of vision.
Posterior Microphthalmos Pigmentary Retinopathy Syndrome
Published date: Apr 19 2023
Journal Title: Journal of Ophthalmic and Vision Research
Issue title: April–June 2023, Volume 18, Issue 2
Pages: 240–244
Authors:
Abstract:
Purpose: To report a case of a rare disease entity Posterior Microphthalmos Pigmentary Retinopathy Syndrome (PMPRS) in a 47-year-old female with a brief review of literature.
Case Report: A 47-year-old woman presented with a history of defective vision with an associated difficulty in night vision. Clinical workup was done, which included a thorough ocular examination showing diffuse pigmentary mottling of fundus, ocular biometry showing short axial length with normal anterior segment dimensions, electroretinography showing extinguished response, optical coherence tomography showing foveoschisis, and ultrasonography showing thickened sclera–choroidal complex. Findings were consistent with those reported by other authors with PMPRS.
Conclusion: Posterior microphthalmia with or without other ocular and systemic associations should be suspected in cases with high hyperopia. It is mandatory to carefully examine the patient at presentation and close follow-ups are needed to maintain visual function.
Keywords: Foveoschisis, MFRP Gene, Microphthalmos, Posterior Microphthalmos, Retinitis Pigmentosa
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