TY - JOUR
T1 - Retinal Folds as a Clinical Feature of X-Linked Retinoschisis
T2 - A Series of Three Cases
AU - Laura, Diana M.
AU - Ashkenazy, Noy
AU - Anzaldo, Estephania Feria
AU - Negron, Catherin I.
AU - Berrocal, Audina M.
N1 - Funding Information:
Acknowledgements: Supported by a National Institutes of Health Center Grant (P30EY014801) to Dr. Audina M. Berrocal and an unrestricted grant from Research to Prevent Blindness (GR004596) to the University of Miami. The authors thank Giselle De’Oliveira, ophthalmic photographer, for her technical support with the images in this article.
Publisher Copyright:
© SLACK Incorporated.
PY - 2022/6
Y1 - 2022/6
N2 - BACKGROUND AND OBJECTIVE: The most common clinical features of X-linked retinoschisis (XLRS) include macular schisis in a spoke wheel pattern and peripheral schisis, though other findings such as vitreous veils, vascular attenuation, and subretinal fibrosis have been described. This is the first report to describe retinal folds as a characteristic feature in patients with XLRS. PATIENTS AND METHODS: This was a case series of patients presenting to the retina service at Bascom Palmer Eye Institute with genetically confirmed XLRS. Patients included in this report underwent examination under anesthesia with multimodality imaging. RESULTS: Three patients with XLRS were found to have retinal folds, including a newly characterized “retinal scroll” seen on examination and multimodality imaging. CONCLUSIONS: The presence of a retinal fold should yield a differential diagnosis that includes XLRS in the correct clinical context. Panel-based genetic testing and multimodal imaging are useful in guiding clinical management.
AB - BACKGROUND AND OBJECTIVE: The most common clinical features of X-linked retinoschisis (XLRS) include macular schisis in a spoke wheel pattern and peripheral schisis, though other findings such as vitreous veils, vascular attenuation, and subretinal fibrosis have been described. This is the first report to describe retinal folds as a characteristic feature in patients with XLRS. PATIENTS AND METHODS: This was a case series of patients presenting to the retina service at Bascom Palmer Eye Institute with genetically confirmed XLRS. Patients included in this report underwent examination under anesthesia with multimodality imaging. RESULTS: Three patients with XLRS were found to have retinal folds, including a newly characterized “retinal scroll” seen on examination and multimodality imaging. CONCLUSIONS: The presence of a retinal fold should yield a differential diagnosis that includes XLRS in the correct clinical context. Panel-based genetic testing and multimodal imaging are useful in guiding clinical management.
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U2 - 10.3928/23258160-20220601-01
DO - 10.3928/23258160-20220601-01
M3 - Article
C2 - 35724367
AN - SCOPUS:85132264283
SN - 2325-8160
VL - 53
SP - 326
EP - 331
JO - Ophthalmic Surgery and Lasers
JF - Ophthalmic Surgery and Lasers
IS - 6
ER -