Juvenile retinoschisis is a congenital X-linked recessive retinal disorder.Patients may develop nystagmus, decreased central vision, or strabismus. Fundusfindings vary considerably, from the absence of a foveal reflex to the presenceof a large, elevated schisis cavity involving the fovea. The protean findingis a foveal schisis. Histologically, the peripheral retinoschisis is foundin the nerve fiber layer. However, on review of recent literature, it is notclear where the foveal split occurs. The progression of juvenile retinoschisisis associated with changes in the fovea and underlying retinal pigment epithelium.1 Additionalinformation may be gleaned from fluorescein angiography, electroretinography,or genetic studies.
Optical coherence tomography (OCT) is a recent advance in retinal imaging;the techniques of this modality are described elsewhere.2 Fewcase reports describe OCT imaging of this disease.2 Wedemonstrate the use of OCT to highlight unique foveal findings in a patientwith juvenile retinoschisis.
A 26-year-old man came to our office for evaluation of decreased vision and foveal schisis. This patientwas previously examined and diagnosed when he was 10 years old.
The best-corrected visual acuity was 20/60 OD and 20/50 OS. Refractionwas +0.50 sphere OU. Pupillary reflexes were normal. The optic discs wereboth normal. Foveal schisis and internal limiting membrane changes were observedin each eye (Figure 1). No vitreousdetachment was present. Peripherally, there were a localized chorioretinalscar in the right eye and a relatively flat retinoschisis cavity in the left.
Red-free photographs demonstratefoveomacular schisis in both eyes.
Electroretinography demonstrated decreased b-wave amplitude, which wasconsistent with the diagnosis. After adequate dilation, OCT (Optical CoherenceTomograph version 3000; Zeiss Humphrey Instruments, Dublin, Calif) was performed.Six-millimeter radial sections of each macula were completed. The OCT figuresdemonstrated schisis of at least 2 retinal layers adjacent to the fovea. Thecenter of the fovea, however, was not elevated (Figure 2).
Two-dimensional optical coherencetomographic (OCT) scan of the right eye, with horizontal (A) and vertical(B) sections through the macula. Note the broad central area of flat fovealtissue surrounded by multiple levels of schisis. Horizontal (C) and vertical(D) sections reflect similar pathologic features in the left eye.
X-linked juvenile retinoschisis is a retinal dystrophy that may havea variety of clinical findings. Fundus findings often mimic cystoid macularedema; however, there is no leakage on fluorescein angiography. The pathologicfeature involves a split in the nerve fiber layer and may be related to Mullercell dysfunction.3 Funduscopy demonstratesfoveal schisis in virtually all patients and peripheral retinoschisis in halfof the cases.3 Clinically, pigmentary changescan develop in the fovea with loss of foveal schisis across time.3 Moreover, the plications described with X-linkedjuvenile retinoschisis reflect a true split in the retina, as supported bythe OCT findings. The OCT indicates that the split involves multiple retinallayers in the same cross section, including the nerve fiber layer and/or deeperlayers. The broad area of flat central tissue on OCT suggests that fovealschisis may collapse with subsequent alterations of the retinal pigment epitheliumand overlying retina. Menchini et al4 haveshown similar OCT results in myopic females with unilateral macular retinoschisis.
In conclusion, OCT may offer new insight into the pathologic featuresof this condition. In this case, it was used to reveal unique foveal pathologicfeatures of a patient with a clinical diagnosis of X-linked juvenile retinoschisis.
Correspondence: Dr Shakin, 600 Northern Blvd, Suite 216, Great Neck,NY 11021 (firstname.lastname@example.org).
Greene JM, Shakin EP. Optical Coherence Tomography Findings in Foveal Schisis. Arch Ophthalmol. 2004;122(7):1066-1067. doi:10.1001/archopht.122.7.1066