Case Report: Stickler Syndrome Diagnosis Follows Rare Ophthalmological Manifestations

Asian male doctors test children’s vision. An Asian optometrist pointed to a vision chart to examine the boy’s eyesight. In the ophthalmology clinic, He has a smiling face
When systemic signs are not evident, ophthalmologists play a major role in diagnosis.

Stickler syndrome, a rare, hereditary connective tissue disorder, may in some cases present with ocular manifestations. A report published in the Turkish Journal of Ophthalmology presented a case with ophthalmological findings  not previously described in the literature, according to the researchers. 

A 9-year-old patient presented with high myopia and progressive vision loss. At the first evaluation, clinicians noted a logMAR best corrected visual acuity (BCVA) of 0.48 and 0.18 in the right and left eyes, respectively. Refraction was -7.50 -1.00 x 180 and -7.50 -0.75 x 180 in each eye, and retinal findings were normal. Fluorescein angiography and spectral domain optical coherence tomography (SD-OCT) were also conducted, the results of which identified bilateral foveal hypoplasia with attenuation of outer retinal bands in the right eye and bilateral hyperfluorescence in the macular areas. 

Examinations were repeated 2 years later. Right eye BCVA had decreased to 1.0 logMAR and evidence of bilateral marked vitreous syneresis with membranous formations was found. Clinicians did not identify any vitreous cells and retinal findings were unchanged. Additional evaluation showed peripheral vessel leakage in the right eye, in addition to focal areas of capillary nonperfusion, hyper autofluorescence in the posterior pole, and total loss of the ellipsoid zone with marked atrophy in outer retinal layers. The patient’s left eye remained stable. 

Clinicians referred the patient for genetic testing, which revealed a frame-shift pathogenic variant suggestive of Stickler syndrome type 1. Parental genetic testing found that the child had a de novo mutation. 

Consultation with a clinical geneticist found “very subtle” signs of malar hypoplasia with retromicrognathia and crowded teeth, bifid uvula, high arched palate, and camptodactyly of the fifth finger, supporting a Stickler syndrome diagnosis. 

After testing ruled out other possible diagnoses and additional conditions, suspicions that the retinal atrophy was not a coincidental finding, but rather a Stickler syndrome-related ocular manifestation, were confirmed. 

“When systemic signs are not evident, ophthalmologists play a major role in the diagnosis [of Stickler syndrome],” the research concludes. “This occurs especially in cases of mutations in exon 2 of the COL2A1 gene that can produce a phenotype with predominantly ocular manifestations. The majority of patients presenting to an ophthalmologist will have either type 1 or type 2 Stickler syndrome and are frequently myopes.”


Navarrete A, Kimchi A, Levy J, Meiner V, Amer R, Yahalom C. Progressive visual loss without retinal detachment in Stickler syndrome: An uncommon and novel presentation. Turk J Ophthalmol. 2020;50(6):387-389. doi:10.4274/tjo.galenos.2020.33858.