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Foveal Hypoplasia in Patients with Stickler Syndrome.
Ophthalmology. 2017 06; 124(6):896-902.O

Abstract

PURPOSE

To determine the microstructure of the fovea in patients with Stickler syndrome using imaging by spectral-domain optical coherence tomography (SD OCT) and swept-source OCT.

DESIGN

Retrospective case series study.

PARTICIPANTS

A total of 39 eyes of 25 patients with genetically confirmed Stickler syndrome were studied.

METHODS

All of the patients had mutations in the COL2A1 gene and were diagnosed with Stickler syndrome. Cross-sectional OCT images, OCT angiography (OCTA), and en face OCT images were assessed. The ratio of the foveal inner retinal layer (fIRL) thickness to the parafoveal inner retinal layer (pIRL) thickness, the ratio of the foveal outer retinal layer (fORL) thickness to the parafoveal outer retinal layer (pORL) thickness, and the size of the foveal avascular zone (FAZ) were determined.

MAIN OUTCOME MEASURES

The degree of foveal hypoplasia and the best-corrected visual acuity in patients with Stickler syndrome.

RESULTS

A persistence of the inner retinal layers in the fovea with an fIRL/pIRL ratio >0.2 was present in 32 of the 39 eyes (82%). Optical coherence tomography angiography showed that the FAZ was smaller, 0 to 0.19 mm2, than that of normal eyes, in 25 eyes of 17 patients who underwent OCTA. There was no significant correlation between the visual acuities and the fIRL/pIRL ratios.

CONCLUSIONS

A mild foveal hypoplasia with a persistence of the IRL is characteristic of eyes with Stickler syndrome. The visual acuities were not correlated with the fIRL/pIRL ratios.

Authors+Show Affiliations

Department of Ophthalmology, University of Occupational and Environmental Health, Kitakyushu, Japan.Department of Ophthalmology, University of Occupational and Environmental Health, Kitakyushu, Japan.Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.Department of Ophthalmology, Oita University, Oita, Japan.Department of Ophthalmology, Oita University, Oita, Japan.Department of Ophthalmology, Shiga University of Medical Science, Shiga, Japan.Department of Ophthalmology, Kindai University Sakai Hospital, Osaka, Japan.Department of Ophthalmology, University of Occupational and Environmental Health, Kitakyushu, Japan. Electronic address: kondohi@med.uoeh-u.ac.jp.

Pub Type(s)

Journal Article
Multicenter Study
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

28283280

Citation

Matsushita, Itsuka, et al. "Foveal Hypoplasia in Patients With Stickler Syndrome." Ophthalmology, vol. 124, no. 6, 2017, pp. 896-902.
Matsushita I, Nagata T, Hayashi T, et al. Foveal Hypoplasia in Patients with Stickler Syndrome. Ophthalmology. 2017;124(6):896-902.
Matsushita, I., Nagata, T., Hayashi, T., Kimoto, K., Kubota, T., Ohji, M., Kusaka, S., & Kondo, H. (2017). Foveal Hypoplasia in Patients with Stickler Syndrome. Ophthalmology, 124(6), 896-902. https://doi.org/10.1016/j.ophtha.2017.01.046
Matsushita I, et al. Foveal Hypoplasia in Patients With Stickler Syndrome. Ophthalmology. 2017;124(6):896-902. PubMed PMID: 28283280.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Foveal Hypoplasia in Patients with Stickler Syndrome. AU - Matsushita,Itsuka, AU - Nagata,Tatsuo, AU - Hayashi,Takaaki, AU - Kimoto,Kenichi, AU - Kubota,Toshiaki, AU - Ohji,Masahito, AU - Kusaka,Shunji, AU - Kondo,Hiroyuki, Y1 - 2017/03/07/ PY - 2016/12/22/received PY - 2017/01/27/revised PY - 2017/01/27/accepted PY - 2017/3/12/pubmed PY - 2017/7/18/medline PY - 2017/3/12/entrez SP - 896 EP - 902 JF - Ophthalmology JO - Ophthalmology VL - 124 IS - 6 N2 - PURPOSE: To determine the microstructure of the fovea in patients with Stickler syndrome using imaging by spectral-domain optical coherence tomography (SD OCT) and swept-source OCT. DESIGN: Retrospective case series study. PARTICIPANTS: A total of 39 eyes of 25 patients with genetically confirmed Stickler syndrome were studied. METHODS: All of the patients had mutations in the COL2A1 gene and were diagnosed with Stickler syndrome. Cross-sectional OCT images, OCT angiography (OCTA), and en face OCT images were assessed. The ratio of the foveal inner retinal layer (fIRL) thickness to the parafoveal inner retinal layer (pIRL) thickness, the ratio of the foveal outer retinal layer (fORL) thickness to the parafoveal outer retinal layer (pORL) thickness, and the size of the foveal avascular zone (FAZ) were determined. MAIN OUTCOME MEASURES: The degree of foveal hypoplasia and the best-corrected visual acuity in patients with Stickler syndrome. RESULTS: A persistence of the inner retinal layers in the fovea with an fIRL/pIRL ratio >0.2 was present in 32 of the 39 eyes (82%). Optical coherence tomography angiography showed that the FAZ was smaller, 0 to 0.19 mm2, than that of normal eyes, in 25 eyes of 17 patients who underwent OCTA. There was no significant correlation between the visual acuities and the fIRL/pIRL ratios. CONCLUSIONS: A mild foveal hypoplasia with a persistence of the IRL is characteristic of eyes with Stickler syndrome. The visual acuities were not correlated with the fIRL/pIRL ratios. SN - 1549-4713 UR - https://www.unboundmedicine.com/medline/citation/28283280/Foveal_Hypoplasia_in_Patients_with_Stickler_Syndrome_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0161-6420(16)32453-8 DB - PRIME DP - Unbound Medicine ER -