Retinal elevation in an infant.

Case

An 8-month-old African-American boy with right esotropia for 4 months was found to have a possible retinal detachment in both eyes (OU), suspicious for underlying malignancy. On examination, visual acuity was poor fixing and following. There was 40-prism diopter right esotropia without nystagmus. Intraocular pressures were normal, vitreous was clear, and there was no cataract or leukocoria OU. Bilateral inferior retinal elevation was seen extending through the macula OU with exudation in the right eye (OD) as well as intraretinal hemorrhage in the left eye (OS) (A, B).

What is Your Next Step?

Perform cryotherapy to leaking vessels and laser photocoagulation to the detached retina

Give intravitreal antivascular endothelial growth factor injection

Treat with three-agent chemotherapy

Examine maternal uncles and test for the RS1 gene

Findings

The retinal elevation involved the entire inferior hemiretina OU, with bullous configuration suggestive of retinoschisis [Fig. 1a and b]. Ocular ultrasonography depicted retinoschisis without intraocular mass OU [Fig. 1c]. Optical coherence tomography confirmed the macular extension of the retinoschisis and depicted flat superior retina OU. Fluorescein angiography identified multifocal areas of inner wall retinal neovascularization OS that served as the source of intraschisis hemorrhage [Fig. 1d]. There was no iris neovascularization.

Figure 1

An 8-month old African-American boy presented with right esotropia for 4 months and was found to have (a) an inferior retinal elevation with exudation on fundoscopy of the right eye and (b) an inferior retinal elevation with intraretinal hemorrhage on fundoscopy of the left eye. (c) B-scan ultrasonography revealed retinoschisis in both eyes. (d) Fluorescein angiography showed multifocal areas of inner wall retinal neovascularization serving as the source of intraschisis hemorrhage

Diagnosis

X-linked retinoschisis OU.

Correct Answer:

D

Discussion

X-linked retinoschisis is an inherited retinal degeneration characterized by splitting of the superficial and deep layers of the retina.[1] This disease is associated with mutations in the retinoschisin 1 (RS1) gene. Affected males present in the first decade of life with impaired vision and strabismus.[1] Intraschisis hemorrhage is atypical, and the etiology in this case probably relates to retinal neovascularization. Management includes strabismus treatment, refractive correction, and vitreoretinal surgery if retinal detachment occurs.[1] Additionally, evaluation of maternal uncles and genetic testing can assist in confirming the diagnosis. Clinical trials involving adeno-associated virus-mediated RS1 gene therapy are underway.[2]

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.