eMedicine Specialties > Ophthalmology > Retina

Retinoschisis, Juvenile: Differential Diagnoses & Workup

Author: Mi-Kyoung Song, MD, Vitreoretinal Surgeon, Eye Associates of New Mexico
Coauthor(s): Kent W Small, MD, Director/President, Macular and Retinal Disease Center; President, Molecular Insight LLC; Consulting Surgeon, Glendale Eye Medical Group
Contributor Information and Disclosures

Updated: Nov 26, 2007

Differential Diagnoses

ARMD, Nonexudative
Retinitis Pigmentosa

Other Problems to Be Considered

Stargardt disease
Cone dystrophy
Nicotinic acid maculopathy
Cystoid macular edema
Wagner vitreoretinal dystrophy
Norrie disease
Familial exudative vitreoretinopathy (FEV)
Goldmann-Favre dystrophy

Workup

Laboratory Studies

  • Optical coherence tomography (OCT) provides high-resolution cross-sectional images of the macular region. In individuals with XJR, OCT reveals cystic spaces primarily in the inner nuclear and outer plexiform layers of the retina. OCT can be useful in differentiating retinoschisis from retinal detachment. OCT may be limited by reflectivity from dense hemorrhage, which may interfere with the visualization of the retina. The view of the periphery using OCT is somewhat limited.

Imaging Studies

  • Fluorescein angiography (FA) does not aid in the diagnosis of XJR. However, FA can help differentiate foveal schisis cavity from cystoid macular edema. In XJR, the angiographic results are normal, whereas in cystoid macular edema, late hyperfluorescence in a petaloid pattern is seen. Peripheral areas of nonperfusion can also be seen.
  • Indocyanine green (ICG) angiography performed on patients with XJR shows a distinct hyperfluorescence in the macular region that is associated with radial lines of hypofluorescence centered on the foveola in the early phase. This feature disappears in the late phase of the ICG angiography.

Other Tests

  • Electroretinogram (ERG) can be used as a diagnostic tool.
    • In recessive XJR, ERG findings show negative-shaped responses (eg, normal a-wave, reduced b-wave). Normally, the b-wave has a greater amplitude than the a-wave. In recessive XJR, the b-wave amplitude does not rise up to the level where the a wave began. With age and increasing atrophy of the retinal pigment epithelium, a- and b-wave amplitudes may both be reduced.
    • ERG dysfunction is found throughout the retina and is not limited to schitic areas. Therefore, both focal and macular ERG and full-field ERG yield similar results.
  • DNA sequencing of the XLRS1 gene can be a useful adjunct to diagnosis.
  • The electro-oculography findings are normal in young patients, and it is not a useful tool in the late stages as the light peak-to-dark trough ratio deteriorates. The visual-evoked response exhibits delayed peak times consistent with abnormal macular function.

Histologic Findings

XJR results from splitting of the inner retina, primarily within the nerve fiber layer in the fovea and in the periphery. Splitting may also occur within the ganglion cell layer or the internal limiting membrane. A filamentous, extracellular material with features consistent with a Muller cell origin has been described within the retina.

Recently, an analysis of an undiluted sample of intraschisis fluid obtained during surgical repair of a patient with XJR revealed the presence of two proteins. They were tenascin-C, an extracellular matrix protein involved in wound healing, and cystatin C, an ubiquitous cysteine protease inhibitor implicated in inflammation.

More on Retinoschisis, Juvenile

Overview: Retinoschisis, Juvenile
Differential Diagnoses & Workup: Retinoschisis, Juvenile
Treatment & Medication: Retinoschisis, Juvenile
Follow-up: Retinoschisis, Juvenile
Multimedia: Retinoschisis, Juvenile
References
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References

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Further Reading

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Keywords

X-linked juvenile retinoschisis, XJR, congenital cystic retinal detachment, congenital vascular veils in the vitreous, vitreous veils

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Contributor Information and Disclosures

Author

Mi-Kyoung Song, MD, Vitreoretinal Surgeon, Eye Associates of New Mexico
Mi-Kyoung Song, MD is a member of the following medical societies: American Academy of Ophthalmology, American Medical Association, American Society of Retina Specialists, and New Mexico Medical Society
Disclosure: Nothing to disclose.

Coauthor(s)

Kent W Small, MD, Director/President, Macular and Retinal Disease Center; President, Molecular Insight LLC; Consulting Surgeon, Glendale Eye Medical Group
Kent W Small, MD is a member of the following medical societies: American Academy of Ophthalmology, American Association for the Advancement of Science, American College of Physician Executives, American Medical Association, American Medical Informatics Association, American Ophthalmological Society, American Society of Human Genetics, Association for Research in Vision and Ophthalmology, California Medical Association, Macula Society, Pan-American Association of Ophthalmology, and Retina Society
Disclosure: Nothing to disclose.

Medical Editor

Russell P Jayne, MD, Consulting Vitreoretinal Surgeon, The Retina Center at Las Vegas
Russell P Jayne, MD is a member of the following medical societies: American Medical Association, American Society of Cataract and Refractive Surgery, and American Society of Retina Specialists
Disclosure: Nothing to disclose.

Pharmacy Editor

Simon K Law, MD, PharmD, Assistant Professor of Ophthalmology, Jules Stein Eye Institute; Chief of Section of Ophthalmology Surgical Services, Department of Veterans Affairs Healthcare Center, West Los Angeles
Simon K Law, MD, PharmD is a member of the following medical societies: American Academy of Ophthalmology, American Glaucoma Society, and Association for Research in Vision and Ophthalmology
Disclosure: Nothing to disclose.

Managing Editor

Steve Charles, MD, Director of Charles Retina Institute; Clinical Professor, Department of Ophthalmology, University of Tennessee College of Medicine
Steve Charles, MD is a member of the following medical societies: American Academy of Ophthalmology, American Society of Retina Specialists, Club Jules Gonin, Macula Society, and Retina Society
Disclosure: Alcon Laboratories Consulting fee Consulting

CME Editor

Lance L Brown, OD, MD, Ophthalmologist, Affiliated With Freeman Hospital and St John's Hospital, Regional Eye Center, Joplin, Missouri
Disclosure: Nothing to disclose.

Chief Editor

Hampton Roy Sr, MD, Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences
Hampton Roy Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, and Pan-American Association of Ophthalmology
Disclosure: Nothing to disclose.

 
 
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