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Autosomal Recessive Stickler Syndrome.

Thomas R W Nixon1,2, Allan J Richards1, Howard Martin1

  • 1Vitreoretinal Research Group, John van Geest Centre for Brain Repair, University of Cambridge, Forvie Site, Robinson Way, Cambridge CB2 0PY, UK.

Genes
|July 27, 2022
PubMed
Summary

Recessive Stickler syndrome (SS) is a rare genetic disorder caused by variants in collagen and non-collagen genes. Early screening for congenital sensorineural hearing loss and myopia is crucial for timely diagnosis and management.

Keywords:
COL11A1COL9A1COL9A2COL9A3LOXL3LRP2collagenretinal detachmentstickler syndrome

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Area of Science:

  • Genetics and Molecular Biology
  • Ophthalmology
  • Otorhinolaryngology

Background:

  • Stickler syndrome (SS) is a group of inherited connective tissue disorders.
  • It typically presents with ocular, auditory, joint, facial, and palatal abnormalities.
  • While commonly inherited dominantly via collagen gene variants, recessive forms are increasingly recognized.

Purpose of the Study:

  • To review and analyze published cases of recessive Stickler syndrome.
  • To elucidate the genetic basis and clinical manifestations of recessive SS.
  • To emphasize the importance of early diagnosis and management strategies.

Main Methods:

  • Systematic review of published literature on recessive Stickler syndrome.
  • Analysis of patient data from 23 families, comprising 40 individuals.
  • Compilation and summary of genetic variants and associated clinical phenotypes.

Main Results:

  • Recessive SS results from homozygous or compound heterozygous variants in collagen (COL9A1, COL9A2, COL9A3, COL11A1) and non-collagen genes (LRP2, LOXL3, GZF1).
  • High myopia and sensorineural hearing loss are prevalent, particularly with collagen gene variants.
  • Cleft palate is associated with COL11A1 and non-collagen gene variants, while retinal detachment and joint pain occur in a significant minority.

Conclusions:

  • Recessive SS requires consideration in patients with congenital sensorineural hearing loss, especially when accompanied by myopia.
  • Regular ophthalmic reviews and patient/parent education on retinal detachment warning signs are essential.
  • Further research into the long-term prognosis and management of recessive SS is warranted.