DR. MONIKA DAHIYA

DR. MANISHA NADA, DR. JITENDER KUMAR, DR. AAKASH SHARMA

Abstract

X-linked juvenile retinoschisis is a rare macular dystrophy; usually seen in males with a prevalence of 1 in 5000 to 1 in 25000. We report a case of 10-year-old female presenting with inability to read at blackboard from past 3 months. Diminution of vision was painless and gradually progressive with no other significant ocular or medical history. Her BCVA was 6/36 in right eye and 6/24 in left eye. Pupillary reactions were normal with full and painless ocular movements bilaterally. Both eyes anterior segments were essentially normal. On fundus, both eyes had typical radial plication over macula signifying foveal schisis. OCT showed wide hypo-reflective space with vertical palisades splitting the neurosensory retina documenting foveal schisis in both eyes. The patient was diagnosed as X-linked juvenile retinoschisis and on detailed history, there was a consanguineous marriage between her parents. XLR can rarely be observed in females, especially in daughters of close-relative parents.