A Boy With Suddenly Failing Vision

Natalie N. DeBolske; Kimberly G. Yen, MD


April 18, 2018

Case Diagnosis

X-linked retinoschisis (XLRS), an inherited mutation that causes early-onset retinoschisis, or splitting of the retina, is the correct diagnosis. The affected RS1 gene, which encodes the protein retinoschisin, causes a disruption of the retinal layers, usually the outer plexiform layer.[1]

The patient does not have bone-spicule deposits present on fundus examination in the mid-to-far periphery, which are key findings in those with retinitis pigmentosa.[2]

Age-related macular degeneration usually presents in older patients and is associated with progressive vision loss, metamorphopsia, and a central vision scotoma that can be visualized on fundus examination as a well-circumscribed area of depigmentation showing retinal pigment epithelium atrophy.[3]

X-linked familial exudative vitreoretinopathy is characterized by bilateral retinal ischemia caused by the failure of peripheral retinal vascularization. This would be visible on fundus examination and is not a finding in this patient. X-linked familial exudative vitreoretinopathy has an autosomal dominant inheritance pattern, which is inconsistent with the family history of this patient.[4]

Patients with Stargardt disease present with bilateral central vision loss and yellow-white flecks at the level of the retinal pigment epithelium.[5] OCT does not typically show cystic spaces in patients with Stargardt disease.[6]

Clinical Course

The patient is being followed by the retina service. Treatment with topical dorzolamide was initiated, upon which his vision improved.

Genetic testing reveled that he had a mutation in the RS1 gene.


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