Case report: Familial foveal retinoschisis caused by CRB1 gene mutation in a family with recessive inheritance

نویسندگان

چکیده

X-linked retinoschisis is more common in male children and rare females. Clinically, patients mainly present with early onset visual impairment or vision loss, retinal due to division of the inner retina. We report a long-term observation female patient familial foveal (FFR) caused by CRB1 gene complex heterozygotic mutation. The initial symptoms reported this study were very similar some manifestations (XLRS) RS1 mutations involving macular fovea. However, as time going on, splitting height at fovea FFR gradually decreased, extent decreased.

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ژورنال

عنوان ژورنال: Frontiers in Medicine

سال: 2023

ISSN: ['2296-858X']

DOI: https://doi.org/10.3389/fmed.2023.1220075