Autosomal Recessive Stickler Syndrome.

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.