X-Linked Retinoschisis in Females in a Consanguineous Family: A Rare Entity
Journal Title: Turkish Journal of Ophthalmology - Year 2020, Vol 50, Issue 4
Abstract
X-linked juvenile retinoschisis (XLRS) is a disease considered characteristic for males. In this study we report a consanguineous family in which 3 daughters were diagnosed with XLRS. Typical signs of XLRS were detected in 2 girls, aged 4 and 15. Fundoscopic examination of the father and the oldest daughter (age 17) revealed bilateral atrophic macula and retinal thinning. Although rare and considered characteristic for males, XLRS can be seen in females in Middle-East countries that have a high rate of consanguineous marriage. It can be overlooked by ophthalmologists and these patients may be misdiagnosed.
Authors and Affiliations
Mehmet Önen, Kürşat Zor, Erkut Küçük, Gamze Yıldırım
Keywords
Related Articles
- EP ID EP688847
- DOI 10.4274/tjo.galenos.2020.42815
- Views 185
- Downloads 0
ANCA-Negative Churg-Strauss Syndrome Presenting as Bilateral Central Retinal Artery Occlusion: A Case Report
A 42-year-old man with undiagnosed Churg-Strauss syndrome (CSS) developed bilateral central retinal artery occlusion (CRAO). His medical history included bronchial asthma and irregular prednisolone usage but no atheroscl...
The Relationship Between Keratoconus Stage and the Thickness of the Retinal Layers
Objectives: To examine the relationship between keratoconus (KC) stage and the thickness of the retinal layers. Materials and Methods: Retinal layer thicknesses were compared between 85 eyes of 85 KC patients and 40 eye...
Sarcoid-like Granulomatous Intraocular Inflammation Caused by Vemurafenib Treatment for Metastatic Melanoma
Vemurafenib is a potent inhibitor of genetically activated BRAF, which is responsible for tumoral proliferation in cutaneous melanoma. A 56-year-old man receiving vemurafenib therapy presented with uveitis. Over the cour...
Correlation of Ocular Surface Disease and Quality of Life in Indian Glaucoma Patients: BAC-preserved versus BAC-free Travoprost
Objectives: The use of benzalkonium chloride (BAC)-preserved medications is associated with ocular surface disease (OSD) that can negatively affect quality of life (QoL) in glaucoma patients. This study aimed to compare...
Effect of Body Position on Intraocular Pressure Measured by Rebound Tonometer in Healthy Children
Objectives: To evaluate the effect of body position on intraocular pressure (IOP) measurement in the pediatric age group. Materials and Methods: Children whose general condition was healthy and ophthalmic examination wa...