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Stickler Syndrome is a genetic connective tissue disorder that primarily affects the eyes, ears, joints, and craniofacial structures. It is one of the most common causes of hereditary vitreoretinopathy and is often underdiagnosed due to its variable presentation.

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![Overview of the four body systems involved in Stickler syndrome, including the main symptoms.

Acke FRE, De Leenheer EMR. Hearing Loss in Stickler Syndrome: An Update. Genes. 2022; 13(9):1571. https://doi.org/10.3390/genes13091571](attachment:0aaff74f-b2e8-431d-b9a1-035737e1bd20:genes-13-01571-g001.png)

Overview of the four body systems involved in Stickler syndrome, including the main symptoms.

Acke FRE, De Leenheer EMR. Hearing Loss in Stickler Syndrome: An Update. Genes. 2022; 13(9):1571. https://doi.org/10.3390/genes13091571

Mnemonic: STICKLER

S – Skeletal problems (arthritis, scoliosis)
T – Tinnitus/hearing loss
I – Inheritance (AD, COL2A1/11A1)
C – Cleft palate, craniofacial dysplasia
K – Kyphosis/scoliosis
L – Lens anomalies, myopia
E – Eyes (retinal detachment, vitreous changes)
R – Retinal detachment (most serious complication)

Etiology

Gene mutations:
- Most common: COL2A1 (type II collagen) – Stickler type I
- Others: COL11A1, COL11A2, rarely COL9A1, COL9A2, COL9A3
Inheritance pattern:
- Usually autosomal dominant
- Autosomal recessive forms exist but are rare

Clinical Features

I. Ocular manifestations

System	Key Features
High myopia	Present from infancy
Vitreous anomalies	Membranous or beaded pattern
Retinal detachment	Very common, sight-threatening
Cataracts and glaucoma	May occur early

![Vitreous phenotypes – pathognomonic of Stickler syndrome. Schematic and slit-lamp illustrations: left, membranous congenital vitreous anomaly (haploinsufficiency mutations COL2A1); right, beaded congenital vitreous anomaly (COL11A1 dominant negative mutations).

Snead M, Martin H, Bale P, et al. Therapeutic and diagnostic advances in Stickler syndrome. Therapeutic Advances in Rare Disease. 2020;1. doi:10.1177/2633004020978661](attachment:3354c2a7-1c3a-4de2-a4a7-0bbb1deccad3:10.1177_2633004020978661-fig1.jpg)

Vitreous phenotypes – pathognomonic of Stickler syndrome. Schematic and slit-lamp illustrations: left, membranous congenital vitreous anomaly (haploinsufficiency mutations COL2A1); right, beaded congenital vitreous anomaly (COL11A1 dominant negative mutations).

Snead M, Martin H, Bale P, et al. Therapeutic and diagnostic advances in Stickler syndrome. Therapeutic Advances in Rare Disease. 2020;1. doi:10.1177/2633004020978661