This Article  • Extract  • PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citing articles on HighWire  • Citing articles on ISI (2)  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Topic Collections  • Ocular Imaging  • Alert me on articles by topic

Arch Ophthalmol. 2004;122:1066-1067.

Juvenile retinoschisis is a congenital X-linked recessive retinal disorder. Patients may develop nystagmus, decreased central vision, or strabismus. Fundus findings vary considerably, from the absence of a foveal reflex to the presence of a large, elevated schisis cavity involving the fovea. The protean finding is a foveal schisis. Histologically, the peripheral retinoschisis is found in the nerve fiber layer. However, on review of recent literature, it is not clear where the foveal split occurs. The progression of juvenile retinoschisis is associated with changes in the fovea and underlying retinal pigment epithelium.¹ Additional information 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 Few case reports describe OCT imaging of this disease.² We demonstrate the use of OCT to highlight unique foveal findings in a patient with juvenile retinoschisis.

Report of a Case
A 26-year-old man came to our office for evaluation of decreased vision and foveal schisis. This patient was previously examined and diagnosed when he was 10 years old.

The best-corrected visual acuity was 20/60 OD and 20/50 OS. Refraction was +0.50 sphere OU. Pupillary reflexes were normal. The optic discs were both normal. Foveal schisis and internal limiting membrane changes were observed in each eye (Figure 1). No vitreous detachment was present. Peripherally, there were a localized chorioretinal scar in the right eye and a relatively flat retinoschisis cavity in the left.

View larger version (61K): [in this window] [in a new window] Figure 1. Red-free photographs demonstrate foveomacular schisis in both eyes.

Electroretinography demonstrated decreased b-wave amplitude, which was consistent with the diagnosis. After adequate dilation, OCT (Optical Coherence Tomograph version 3000; Zeiss Humphrey Instruments, Dublin, Calif) was performed. Six-millimeter radial sections of each macula were completed. The OCT figures demonstrated schisis of at least 2 retinal layers adjacent to the fovea. The center of the fovea, however, was not elevated (Figure 2).

View larger version (139K): [in this window] [in a new window] Figure 2. Two-dimensional optical coherence tomographic (OCT) scan of the right eye, with horizontal (A) and vertical (B) sections through the macula. Note the broad central area of flat foveal tissue surrounded by multiple levels of schisis. Horizontal (C) and vertical (D) sections reflect similar pathologic features in the left eye.

Comment
X-linked juvenile retinoschisis is a retinal dystrophy that may have a variety of clinical findings. Fundus findings often mimic cystoid macular edema; however, there is no leakage on fluorescein angiography. The pathologic feature involves a split in the nerve fiber layer and may be related to Muller cell dysfunction.³ Funduscopy demonstrates foveal schisis in virtually all patients and peripheral retinoschisis in half of the cases.³ Clinically, pigmentary changes can develop in the fovea with loss of foveal schisis across time.³ Moreover, the plications described with X-linked juvenile retinoschisis reflect a true split in the retina, as supported by the OCT findings. The OCT indicates that the split involves multiple retinal layers in the same cross section, including the nerve fiber layer and/or deeper layers. The broad area of flat central tissue on OCT suggests that foveal schisis may collapse with subsequent alterations of the retinal pigment epithelium and overlying retina. Menchini et al⁴ have shown similar OCT results in myopic females with unilateral macular retinoschisis.

In conclusion, OCT may offer new insight into the pathologic features of this condition. In this case, it was used to reveal unique foveal pathologic features of a patient with a clinical diagnosis of X-linked juvenile retinoschisis.

AUTHOR INFORMATION

Joshua M. Greene, MD; Eric P. Shakin, MD

Correspondence: Dr Shakin, 600 Northern Blvd, Suite 216, Great Neck, NY 11021 (livitreo{at}gte.net).

REFERENCES
1. Condon GP, Brownstein S, Wang NS, Kearns JAF, Ewing CC. Congenital hereditary (juvenile X-linked) retinoschisis: histopathologic and ultrastructural findings in 3 eyes. Arch Ophthalmol. 1986;104:576-583. ABSTRACT 2. Stanga PE, Chong NH, Reck AC, Hardcastle AJ, Holder GE. Optical coherence tomography and electrophysiology in X-linked juvenile retinoschisis associated with a novel mutation in the XLRS1 gene. Retina. 2001;21:78-80. FULL TEXT | ISI | PUBMED 3. Manschot WA. Pathology of hereditary juvenile retinoschisis. Arch Ophthalmol. 1972;88:131-138. ISI | PUBMED 4. Menchini U, Brancato R, Virgili G, Pierro L. Unilateral macular retinoschisis with stellate foveal appearance in 2 females with myopia. Ophthalmic Surg Lasers. 2000;31:229-232. PUBMED

SECTION EDITOR: W. RICHARD GREEN, MD

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Retinal Morphological Changes of Patients With X-linked Retinoschisis Evaluated by Fourier-Domain Optical Coherence Tomography
Gerth et al.
Arch Ophthalmol 2008;126:807-811.
ABSTRACT | FULL TEXT