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Similar Publications

Purpose: To report the case of a patient with X-linked juvenile retinoschisis (XLRS), caused by an in-frame deletion of the RS1 gene, who presented visual loss due to bilateral central serous chorioretinopathy (CSC).Methods: Observational case report.

Results: A 34-year-old man, with type-A personality, presented with a one-month history of decreased visual acuity and metamorphopsia in his right eye.

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To report an unusual optical coherence tomography (OCT) finding, bilayered retinoschisis formation in the macular region, during non-arteritic anterior ischemic optic neuropathy (NAION). This is a case report of a patient with NAION and an unusual OCT finding, bilayered retinoschisis formation. A 62-year-old female presented with decreased visual acuity in her right eye for one year.

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Identification of a novel CRB1 variant in a compound heterozygous state in a patient with CRB1-associated maculopathy and foveal retinoschisis.

Ophthalmic Genet

April 2022

Alder Hey Children's Nhs Foundation Trust, Department of Ophthalmology, Alder Hey Children's Hospital, Liverpool, United Kingdom of Great Britain and Northern Ireland.

Purpose: To report a novel CRB1 variant responsible for autosomal recessive foveal retinoschisis and its associated clinical and electrophysiological data.

Methods: A case report.

Results: A 15-year-old boy has foveal retinoschisis similar to those seen in X-linked retinoschisis (XLRS).

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An 18-year-old man presented with decreased vision in the right eye (OD) noticed for 1 month. On examination, OD best-corrected visual acuity was 3/60 and the left eye (OS) was 6/6 with intraocular pressure of 12 mm Hg in both the eyes (OU). OD fundus revealed an inferior optic-disc-pit with macular-retinoschisis and an inferior choroidal coloboma.

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Retinoschisis associated with Kearns-Sayre syndrome.

Ophthalmic Genet

October 2020

Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.

Background: Kearns-Sayre Syndrome (KSS) is characterized by pigmentary retinopathy, external ophthalmoplegia and heart block. We report on a now 24-year-old male with clinical retinoschisis and molecularly confirmed KSS.

Materials And Methods: Physical and complete ophthalmic examination, molecular diagnosis.

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