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Category: Volume 08 Issue 05 May 2020
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Title: Hereditary Progressive Arthro-ophthalmodystrophy -Stickler Syndrome- A Rare Case Report

Authors: Dr (Prof) Vijay Bhaisare, Dr Jaishree Lilani, Dr Sanchaikya Thakur, Dr Isha Gupta

 DOI: https://dx.doi.org/10.18535/jmscr/v8i5.16

Abstract

 

Introduction

  • It is a progressive autosomal dominant connective tissue disorder due mutation in type ii procollagen (COL2A1) located at long arm of chromosome 12.
  • Systemic Features
  • Premature Osteoarthritis
  • Hearing Loss
  • Skeletal and facial malformations (hypoplasias, cleft palate, depressed nasal bridge)
  • Cardiovascular Abnormalities

References

  1. Stickler G. Hereditary Progressive Arthro-Ophthalmopathy. Mayo Clinic proceedings. 1965-06; 40:433-55.
  2. Snead M. Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist. Eye (London). 2011-11;25:1389-400.
  3. Pediatric Ophthalmology and Strabismus, Section 6. Basic and Clinical Science Course, AAO, 2011-2012.
  4. S. Parma, J. Korkko, W.S. Hagler, L. Ala-Kokko. Radial perivascular retinal degeneration: a key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations. Am J Ophthalmol, 134 (2002), pp. 728–734
  5. Kanski J.clinical ophthalmology, 3rd London :Butterworths,1994,417-418.

Corresponding Author

Dr Jaishree Lilani

Post Graduate Junior Resident Ophthalmology