Peripapillary Hyperreflective Ovoid Mass-Like Structures in Stickler Syndrome

Area of Science:

• Ophthalmology
• Genetics
• Medical Imaging

Background:

• Stickler syndrome is a genetic disorder affecting connective tissue.
• Optic disc abnormalities are common in Stickler syndrome.
• Peripapillary hyperreflective ovoid mass-like structures (PHOMS) have not been previously described in this condition.

Purpose of the Study:

• To report the novel finding of peripapillary hyperreflective ovoid mass-like structures (PHOMS) in patients with Stickler syndrome.
• To characterize the prevalence and associated features of PHOMS in this cohort.

Main Methods:

• A noncomparative case series of 22 eyes from 11 Stickler syndrome patients.
• Enhanced-depth imaging optical coherence tomography (EDI-OCT) was used to image the optic discs.
• PHOMS and coexisting optic disc drusen were graded according to consensus recommendations; autofluorescence was also used.

Main Results:

• PHOMS were present in 91% of the 22 imaged eyes.
• All eyes were myopic; PHOMS presence was not correlated with the degree of myopia.
• Associated findings included retinal detachment (one eye), prophylactic retinopexy (77.3%), hearing loss (32.3%), orofacial manifestations (22.7%), and joint laxity/arthritis symptoms (77.3%).

Conclusions:

• PHOMS represent a novel finding in Stickler syndrome.
• The presence of PHOMS should be considered in the ophthalmic evaluation of Stickler syndrome patients.
• Further research is warranted to understand the pathogenesis and clinical significance of PHOMS in Stickler syndrome.