Download fulltext HTML
1.
Saifuddin Adeel S, Mohideen KA S, Sharma A, Shah V, Shetty A. Posterior Microphthalmos Pigmentary Retinopathy Syndrome. JOVR [Internet]. 2023Apr.19 [cited 2024May3];18(2):240–244. Available from: https://knepublishing.com/index.php/JOVR/article/view/13190

https://doi.org/10.18502/jovr.v18i2.13190

statistics

  • 520 Abstract Views
  • 258 PDF Views
  • 0 HTML Views

authors

  • Syed Saifuddin Adeel

    Syed Saifuddin Adeel

    Department of Retina Vitreous, Aravind Eye Hospital, Tirunelveli, Tamil Nadu, India
  • Syed Mohideen KA

    Syed Mohideen KA

    Department of Retina Vitreous, Aravind Eye Hospital, Tirunelveli, Tamil Nadu, India
  • Anuj Sharma

    Anuj Sharma

    Retina Services, Neoretina Eyecare Institute, Hyderabad, Telangana, India
  • Vinit Shah

    Vinit Shah

    Department of Retina Vitreous, Aravind Eye Hospital, Tirunelveli, Tamil Nadu, India
  • Adheesh Shetty

    Adheesh Shetty

    Department of Retina Vitreous, Aravind Eye Hospital, Tirunelveli, Tamil Nadu, India

Published Date

  • Apr 19, 2023
This journal is publishing all the articles under Creative Commons Attribution License CC BY 4.0.

Posterior Microphthalmos Pigmentary Retinopathy Syndrome

Journal of Ophthalmic and Vision Research (JOVR) / April–June 2023, Volume 18, Issue 2 / Pages 240–244

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

References
1. Elder MJ. Aetiology of severe visual impairment and blindness in microphthalmos. Br J Ophthalmol 1994;78:332–334.

2. Spitznas M, Gerke E, Bateman JB. Hereditary posterior microphthalmos with papillomacular fold and high hyperopia. Arch Ophthalmol 1983;101:413–417.

3. Khairallah M, Messaoud R, Zaouali S, Ben Yahia S, Ladjimi A, Jenzri S. Posterior segment changes associated with posterior microphthalmos. Ophthalmology 2002;109:569–574.

4. Lee S, Ai E, Lowe M, Wang T. Bilateral macular holes in sporadic posterior microphthalmos. Retina 1990;10:185– 188.

5. Kim JW, Boes DA, Kinyoun JL. Optical coherence tomography of bilateral posterior microphthalmos with papillomacular fold and novel features of retinoschisis and dialysis. Am J Ophthalmol 2004;138:480–481.

6. Morillo Sánchez MJ, Llavero Valero P, González-Del Pozo M, Ponte Zuñiga B, Antiñolo G, Ramos Jiménez M, et al. Posterior microphthalmos, retinitis pigmentosa, and foveoschisis caused by a mutation in the MFRP gene: A familial study. Ophthalmic Genet 2019;40:288–292.

7. Mukhopadhyay R, Sergouniotis PI, Mackay DS, Day AC, Wright G, Devery S, et al. A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy. Mol Vis 2010;16:540–548.

8. Buys YM, Pavlin CJ. Retinitis pigmentosa, nanophthalmos, and optic disc drusen: A case report. Ophthalmology 1999;106:619–622.

9. Ayala-Ramirez R, Graue-Wiechers F, Robredo V, Amato-Almanza M, Horta-Diez I, Zenteno JC. A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. Mol Vis 2006;12:1483–1489.

10. Crespí J, Buil JA, Bassaganyas F, Vela-Segarra JI, Díaz- Cascajosa J, Ayala-Ramírez R, et al. A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititispigmentosa-foveoschisis-optic disk drusen. Am J Ophthalmol 2008;146:323–328.

11. Pehere N, Jalali S, Deshmukh H, Kannabiran C. Posterior microphthalmospigmentary retinopathy syndrome. Doc Ophthalmol 2011;122:127–132.

12. Alsaedi NG, Alrubaie K. Posterior microphthalmia, peripheral pigmentary retinal changes, yellow lesions, and cleft lip: A case report and literature review. Case Rep Ophthalmol Med 2019;2019:8392329.

13. Albar AA, Nowilaty SR, Ghazi NG. Posterior microphthalmos and papillomacular fold-associated cystic changes misdiagnosed as cystoid macular edema following cataract extraction. Clin Ophthalmol 2015;9:73– 76.