A unique case of bilateral nanophthalmos and pigmentary retinal abnormality with unilateral angle closure glaucoma and optic disc pit.

Item request has been placed! ×
Item request cannot be made. ×
loading   Processing Request
Read More Add to Saved list
  • Author(s): Garg P;Garg P; Kumar B; Kumar B; Dubey S; Dubey S
  • Source:
    BMC ophthalmology [BMC Ophthalmol] 2023 Sep 26; Vol. 23 (1), pp. 391. Date of Electronic Publication: 2023 Sep 26.
  • Publication Type:
    Case Reports; Journal Article
  • Language:
    English
  • Additional Information
    • Source:
      Publisher: BioMed Central Country of Publication: England NLM ID: 100967802 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2415 (Electronic) Linking ISSN: 14712415 NLM ISO Abbreviation: BMC Ophthalmol Subsets: MEDLINE
    • Publication Information:
      Original Publication: London : BioMed Central, [2001-
    • Subject Terms:
      Microphthalmos*/complications ; Microphthalmos*/diagnosis ; Optic Disk* ; Glaucoma, Angle-Closure*/complications ; Glaucoma, Angle-Closure*/diagnosis ; Macular Edema* ; Eye Abnormalities*/complications ; Eye Abnormalities*/diagnosis ; Retinitis Pigmentosa*/complications ; Retinitis Pigmentosa*/diagnosis; Female ; Humans ; Middle Aged ; Membrane Proteins
    • Abstract:
      Background: Microophthalmos or 'dwarf eye' is characterized by an axial length 2 standard deviation less than age-matched controls. It is classified into nanophthalmos, relative anterior microphthalmos, and posterior microphthalmos based on the anterior segment: posterior segment ratio. Nanophthalmos can occur in association with optic disc drusen, foveoschisis, and retinitis pigmentosa, as an autosomal recessive syndrome linked to mutations in the MFRP gene. We report a case of bilateral nanophthalmos and pigmentary retinopathy with angle closure glaucoma and optic disc pit in one eye. We believe this to be the first case presenting with optic disc pit in association with nanophthalmos.
      Case Presentation: A 56-year-old female presented with bilateral small eyes, high hypermetropia, shallow anterior chamber depth, increased lens thickness, mid-peripheral retinal flecks, and macular edema. She also had high intraocular pressure in the right eye, with a disc cupping of 0.9 with an Optic disc pit. The macular edema in the right eye was found to occur in association with the Optic disc pit, whereas, in the left eye, it was associated with intra-retinal hemorrhages and diagnosed as macular branch retinal vein occlusion secondary to hypertension. She was started on anti-glaucoma medications in both eyes and planned for Anti-VEGF injection in the left eye.
      Conclusion: This case report is unique as it reports an association of Nanophthalmos with Optic Disc pit, with an associated angle closure glaucoma in the same eye, an association which has never been previously reported in the literature.
      (© 2023. The Author(s).)
    • References:
      Retina. 2015 Oct;35(10):2121-9. (PMID: 25961123)
      Am J Ophthalmol. 2008 Aug;146(2):323-328. (PMID: 18554571)
      Case Rep Ophthalmol Med. 2013;2013:156023. (PMID: 23781365)
      Bull Soc Ophtalmol Fr. 1958 Jan;1:42-5. (PMID: 13546939)
      Eye (Lond). 2016 Jan;30(1):120-6. (PMID: 26493039)
      J Med Genet. 1993 Aug;30(8):664-9. (PMID: 8411053)
      Eur J Ophthalmol. 2011 Jul-Aug;21(4):509-12. (PMID: 21279981)
      Ophthalmic Genet. 2008 Mar;29(1):1-9. (PMID: 18363166)
      Am J Ophthalmol. 1999 Jan;127(1):106-8. (PMID: 9933017)
    • Contributed Indexing:
      Keywords: Angle-closure disease; Nanophthalmos; Optic disc drusen; Optic disc pit
    • Accession Number:
      0 (MFRP protein, human)
      0 (Membrane Proteins)
    • Publication Date:
      Date Created: 20230926 Date Completed: 20231121 Latest Revision: 20231122
    • Publication Date:
      20231122
    • Accession Number:
      PMC10521484
    • Accession Number:
      10.1186/s12886-023-03132-8
    • Accession Number:
      37752465