|ONE MINUTE OPHTHALMOLOGY
|Year : 2019 | Volume
| Issue : 6 | Page : 725
Retinal elevation in an infant
Antonio N Yaghy1, Lauren A Dalvin2, Carol L Shields1
1 Wills Eye Hospital, Philadelphia, PA, USA
2 Wills Eye Hospital, Philadelphia, PA; Dr. Dalvin has an appointment at Mayo Clinic, Rochester, MN, USA
|Date of Web Publication||24-May-2019|
Dr. Carol L Shields
Wills Ocular Oncology Services, Wills Eye Hospital, 840 Walnut Street, Philadelphia 19107, PA
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Yaghy AN, Dalvin LA, Shields CL. Retinal elevation in an infant. Indian J Ophthalmol 2019;67:725
| 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 [Figure 1]a and [Figure 1]b. Ocular ultrasonography depicted retinoschisis without intraocular mass OU [Figure 1]c. 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 [Figure 1]d. There was no iris neovascularization.
| 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. 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. 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. 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.
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
Conflicts of interest
There are no conflicts of interest.
| References|| |
Rao P, Dedania VS, Drenser KA. Congenital X-linked retinoschisis: an updated clinical review. Asia Pac J Ophthalmol (Phila) 2018;7:169-75.
Moore NA, Morral N, Ciulla TA, Bracha P. Gene therapy for inherited retinal and optic nerve degeneration. Expert Opin Biol Ther 2018;18:37-49.