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
- Stickler G. Hereditary Progressive Arthro-Ophthalmopathy. Mayo Clinic proceedings. 1965-06; 40:433-55.
- Snead M. Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist. Eye (London). 2011-11;25:1389-400.
- Pediatric Ophthalmology and Strabismus, Section 6. Basic and Clinical Science Course, AAO, 2011-2012.
- 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
- Kanski J.clinical ophthalmology, 3rd London :Butterworths,1994,417-418.