|Year : 2020 | Volume
| Issue : 2 | Page : 104-108
Am I going blind?; Answers for clinical quiz
Ammar Hamad Al-Farsi1, Sana Al-Zuhaibi2, Anuradha Ganesh2
1 Department of Ophthalmology, Rustaq Hospital, Oman
2 Sultan Qaboos University Hospital, Oman
|Date of Submission||12-May-2019|
|Date of Decision||18-May-2019|
|Date of Acceptance||28-Oct-2019|
|Date of Web Publication||28-May-2020|
Department of Ophthalmology, Sultan Qaboos University Hospital, Seeb
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Al-Farsi AH, Al-Zuhaibi S, Ganesh A. Am I going blind?; Answers for clinical quiz. Oman J Ophthalmol 2020;13:104-8
An 18-year-old male presented with a history of gradual, painless, progressive deterioration of vision in both eyes (OU) noticed few months back. There were no other ocular complaints.
There was no significant medical history.
Family history was unremarkable.
His best-corrected visual acuity was 20/40 (−1.00–0.75 × 110) OD and 20/50 (0.50–0.25 × 51) OS.
Anterior segment examination was unremarkable OU. Dilated fundus examination revealed similar findings OU [Figure 1]. Optical coherence tomography (OCT) also showed abnormalities [Figure 2]. Electroretinogram (ERG) was done [Figure 3].
| Questions|| |
- What are the abnormal findings in [Figure 1], [Figure 2], [Figure 3]?
- What is the differential diagnosis?
- What is the most likely diagnosis from the available information and pictures?
- What is the treatment one may offer to this patient?
Declaration of patient consent
| Answer|| |
- Retinal findings:
- Fundus photos: OU: Normal disc and vessels, macular schisis, and peripheral pigmentary changes
- OCT macula: Intraretinal cysts with schisis in the neurosensory retina
- ERG: Severe reduction in rod function and electronegative ERG.
- Differential diagnosis:
- Juvenile X-linked retinoschisis (JXLRS)
- Macular schisis seen in retinal dystrophies such as enhanced S-cone syndrome
- Central serous chorioretinopathy
- Exudative retinal detachment
- Rhegmatogenous retinal detachment.
- Carbonic anhydrase inhibitor.
Juvenile retinoschisis is an X-linked inherited disease caused by mutations in the XLRS1
gene. It is characterized by bilateral maculopathy, with associated peripheral retinoschisis (50%). This differs from acquired (senile) retinoschisis in which splitting occurs at the outer plexiform layer, whereas in JXLRS, splitting occurs in the retinal nerve fiber layer. Electroretinogram (ERG) may be normal or may show a decrease in the amplitude of b-wave (electronegative). In this patient, ERG showed a severe reduction in rod function, electronegative ERG, and abnormal ON response indicating an inner retinal layer defect [Figure 3]
. Fluorescein angiography does not show leakage.
Patients usually present with a gradual, painless decrease in visual acuity and reading difficulties due to maculopathy. Less frequently, the disease presents in infancy with squint or nystagmus associated with advanced peripheral retinoschisis, often with vitreous hemorrhage. A carbonic anhydrase inhibitor is used to treat macular schisis in JXLRS.
Prognosis is poor due to progressive maculopathy. Visual acuity deteriorates during the first two decades and may remain stable until the 5th
decades when further deterioration occurs.
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.
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Conflicts of interest
There are no conflicts of interest.
[Figure 1], [Figure 2], [Figure 3]