Abstract

Case Report

Ocular manifestations in a case of progeroid syndrome

Gajaraj T Naik*

Published: 11 November, 2021 | Volume 5 - Issue 2 | Pages: 025-028

Progeria syndromes are very rare genetic diseases characterized by premature aging changes. There are several phenotypes and variables noted in literature in some cases difficult to specifically classify a specific syndrome. It occurs due to mutation in DNA repair genes. The most common ocular findings are loss of eyebrow and eyelashes, brow ptosis, lid margin changes, entropion, Meibomian gland dysfunction, severe dry eye, corneal opacity, cataract, poor mydriasis, and rod-cone dystrophy. We report this case with all the above ocular manifestations in 19year old teenager with additional finding being retinal detachment.

Read Full Article HTML DOI: 10.29328/journal.ijceo.1001040 Cite this Article Read Full Article PDF

Keywords:

rogeria; Progeroid syndrome; Ocular manifestations

References

  1. Kamenisch Y, Berneburg M. Progeroid syndromes and UV-induced oxidative DNA damage. J Investig Dermatol Symp Proc.2009; 14: 8-14. PubMed: https://pubmed.ncbi.nlm.nih.gov/19675546/
  2. Chandravanshi SL, Rawat AK, Dwivedi PC, Choudhary P. Ocular manifestations in the Hutchinson-Gilford progeria syndrome. Indian J Ophthalmol. 2011; 59: 509-512. PubMed: https://pubmed.ncbi.nlm.nih.gov/22011502/
  3. Hennekam RC. Hutchinson-Gilford progeria syndrome: review of the phenotype. Am J Med Genet A. 2006; 140: 2603–2624. PubMed: https://pubmed.ncbi.nlm.nih.gov/16838330/
  4. Traboulsi EI, De Becker I, Maumenee IH. Ocular manifestations in cockayne syndrome. Am J Ophthalmol.1992; 114: 579-583. PubMed: https://pubmed.ncbi.nlm.nih.gov/1443019/
  5. Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, et al. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature. 2003; 423: 293-298. PubMed: https://pubmed.ncbi.nlm.nih.gov/12714972/
  6. Stables GI, Morley WN. Hutchinson-Gilford syndrome. J R Soc Med. 1994; 87: 243-244. PubMed: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1294455/
  7. Sarkar PK, Shinton RA. Hutchinson-Guilford progeria syndrome. Postgrad Med J. 2001; 77: 312-317. PubMed: https://pubmed.ncbi.nlm.nih.gov/11320273/
  8. https://www.healthissuesindia.com/2018/05/27/progeria-awareness-in-india/
  9. Bhakoo ON, Garg SK, Sehgal VN. Progeria with unusual ocular manifestations: Report of a case with a review of the literature. Indian Pediatr. 1965; 2: 164-169. PubMed: https://pubmed.ncbi.nlm.nih.gov/5825824/
  10. Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, et al. Phenotype and course of Hutchinson-Gilford progeria syndrome. N Engl J Med. 2008; 358: 592-604. PubMed: https://pubmed.ncbi.nlm.nih.gov/18256394/
  11. Iordãnescu C, Denislam D, Avram E, Chiru A, Busuioc M, et al. Ocular manifestations in progeria. Oftalmologia. 1995; 39: 56-57. PubMed: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3214428/
  12. Gordon LB, McCarten KM, Giobbie-Hurder A, Machan JT, Campbell SE, et al. Disease progression in Hutchinson-Gilford progeria syndrome: Impact on growth and development. Pediatrics. 2007; 120: 824-833. PubMed: https://pubmed.ncbi.nlm.nih.gov/17908770/
  13. Huang S, Lee L, Hanson NB, Lenaerts C, Hoehn H, et al.The spectrum of WRN mutations in Werner syndrome patients. Hum Mutat. 2006; 27: 558-567. PubMed: https://pubmed.ncbi.nlm.nih.gov/16673358/
  14. Natale V, Raquer H. Xeroderma pigmentosum-cockayne syndrome complex. Orphanet J Rare Dis. 2017; 12: 65.PubMed: https://pubmed.ncbi.nlm.nih.gov/28376890/
  15. Ramkumar HL, Brooks BP, Cao X, Tamura D, Digiovanna JJ,  et al. Ophthalmic Manifestations and Histopathology of Xeroderma pigmentosum: two clinicopathological cases and a review of the literature. 2011; 56: 348-361. PubMed: https://pubmed.ncbi.nlm.nih.gov/21684361/

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