History of present illness
A 13-year-old boy presents to the retina clinic for blurry vision in both eyes. The patient’s mother states that the patient has been on topical dorzolamide for many years prescribed by another ophthalmologist. The patient denies flashes, floaters, or nyctalopia.
Ocular examination findings
Best corrected visual acuity was 20/50 in the right eye and 20/150 in the left eye. Intraocular pressures were 12 mm Hg. The anterior segment examination was normal in each eye. Dilated fundus examination revealed a spoke wheel–like cystic appearance emanating from the fovea of each eye. In addition, there were inferotemporal smooth, dome-shaped retinal elevations in both eyes.
Questions to ask
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What is the patient’s refraction: is the patient myopic? Patients with myopia and staphyloma can develop myopic foveomacular schisis.
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No
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Does the patient have a history of inflammatory eye disease? Uveitis may present with cystoid macular edema that may mimic retinoschisis.
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No
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Does the patient have a past medical history of systemic disease? Conditions such as diabetes mellitus and hypertension are common causes of macular edema (diabetic macular edema, retinal vein occlusion with macular edema) that resemble retinoschisis.
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No
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Does the patient have any family history of vision loss? Assessing the patient’s family history of eye disease, vision loss or consanguinity is important when considering inherited forms of retinoschisis, retinitis pigmentosa, and enhanced S-cone syndrome.
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Yes, the patient’s two maternal uncles have a history of vision loss in childhood. The patient’s mother in unaffected.
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Assessment
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This is a case of a 13-year-old boy with positive family history of childhood vision loss in maternal uncles presenting with bilateral vision loss demonstrating bilateral macular schisis on optical coherence tomography (OCT).
Differential diagnosis
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Myopic foveomacular schisis: as indicated earlier, patient was emmetropic
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Traumatic retinoschisis: patient had no known history of trauma
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Retinitis pigmentosa
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Vitreomacular traction: more commonly seen in older patients when posterior vitreous detachments are evolving
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Cystoid macular edema of any cause: pseudophakia, retinal vascular
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Optic pit: no pit in our patient
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Inherited retinoschisis: autosomal recessive, autosomal dominant, or X-linked
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Medication induced (taxanes, niacin)
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Enhanced S-cone syndrome
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Degenerative retinoschisis: usually seen in older patients
Workup and diagnosis
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Further history revealed the patient’s mother has two brothers who have had severe vision loss since childhood. The patient’s mother denied any other family members with known ocular history or vision loss.
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Genetic testing was performed, and the patient was found to have a pathogenic deletion in the RS1 gene.
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A diagnosis of X-linked retinoschisis was made.
Multimodal testing and results
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Fundus photograph
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Bilateral, spoke wheel–like folds seen emanating from the fovea are indicative of macular schisis and are the hallmark feature of X-linked retinoschisis ( Fig. 4.1 ). Vitreous hemorrhage and retinal detachment are the major vision-threatening complications. Retinal neovascularization or bridging retinal vessels ( Fig. 4.2 ) adjacent to schisis cavities may contribute to vitreous hemorrhage.
Fig. 4.1
A color fundus photograph of the left eye showing subtle, spoke wheel–like pattern emanating from the fovea.
(Reproduced with permission from Tantri A, Vrabec TR, Cu-Unjieng A, Frost A, Annesley WH Jr, Donoso LA. X-linked retinoschisis: a clinical and molecular genetic review. Surv Ophthalmol . 2004; 49(2):214-230, fig. 2.)
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