{Reference Type}: Journal Article
{Title}: Peripapillary Hyperreflective Ovoid Mass-Like Structures in Stickler Syndrome.
{Author}: Khatib TZ;Safi A;Nixon TRW;Georgoulas S;Montesano G;Martin H;Richards AJ;McNinch A;Poulson AV;Alexander P;Snead MP;
{Journal}: Ophthalmol Retina
{Volume}: 0
{Issue}: 0
{Year}: 2024 May 14
暂无{DOI}: 10.1016/j.oret.2024.05.008
{Abstract}: <B>OBJECTIVE: </B>To report a previously undescribed finding of peripapillary hyperreflective ovoid mass-like structures (PHOMS) in Stickler syndrome.<BR><B>METHODS: </B>Noncomparative case series.<BR><B>METHODS: </B>Twenty-two eyes with anomalous optic disc from 11 Stickler syndrome patients were identified and imaged.<BR><B>METHODS: </B>Peripapillary hyperreflective ovoid mass-like structures were graded using enhanced-depth imaging OCT (EDI-OCT) according to the consensus recommendations of the Optic Disc Drusen Studies Consortium. All EDI-OCT scans were obtained using the Heidelberg Spectralis (Heidelberg Engineering) with a dense horizontal raster (15 × 10°, 97 sections) centered on the optic nerve head and graded by 2 independent assessors. In case of disagreement, the image was graded by a third assessor. The presence of any coexisting optic disc drusen was also assessed using EDI-OCT and autofluorescence.<BR><B>METHODS: </B>The presence of PHOMS, clinical characteristics and genetic mutations.<BR><B>RESULTS: </B>A pilot sample of 22 eyes with phenotypic optic disc abnormalities from 11 Stickler syndrome patients were identified and imaged. Eight patients were female and 3 were male. The mean age was 31 years (13-58 years). Peripapillary hyperreflective ovoid mass-like structures were present in 91% (n = 20) of imaged eyes. Seventy percent (n = 14) were type 1 Stickler syndrome and 30% (n = 6) were type 2 Stickler syndrome. All eyes were myopic and the degree of myopia did not seem to affect whether or not PHOMS was present in this cohort. One eye with PHOMS had retinal detachment, and 77.3% (n = 17) of eyes had undergone 360o prophylactic retinopexy. Thirty-two percent (n = 7) of eyes with PHOMS were present in patients with coexisting hearing loss and 22.7% (n = 5) had orofacial manifestation of Stickler syndrome in the form of a cleft palate. Seventy-seven percent (n = 15) of eyes with PHOMS were present in patients who reported joint laxity or symptoms of arthritis. No coexisting optic disc drusen were identified and raised intracranial pressure was also excluded after neurological investigation.<BR><B>CONCLUSIONS: </B>These data suggest that PHOMS are a novel finding in Stickler syndrome patients and should be considered when evaluating the optic nerves of these patients.<BR><B>BACKGROUND: </B>Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.