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Peripapillary Hyperreflective Ovoid Mass-Like Structures in Stickler Syndrome.

Tasneem Z Khatib1, Antoine Safi2, Thomas Ralph William Nixon3

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Peripapillary hyperreflective ovoid mass-like structures (PHOMS) are a novel finding in Stickler syndrome patients. These structures were present in 91% of eyes studied and should be considered during optic nerve evaluation.

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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.