comb. form.

裂開、裂け目

関: 腹壁破裂 gastroschisis、口唇裂 cheilo-schisis

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/09/01 21:39:18」(JST)

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Retinoschisis is an eye disease characterized by the abnormal splitting of the retina's neurosensory layers, usually in the outer plexiform layer. Most common forms are asymptomatic, some rarer forms result in a loss of vision in the corresponding visual field.^[1]

Classification

Hereditary
- X linked juvenile retinoschisis
- Familial foveal retinoschisis

Tractional

Exudative
- Secondary to Optic disc pit

Degenerative
- Typical
- Reticular

Degenerative Retinoschisis

This type of retinoschisis is very common with a prevalence of up to 7 percent in normal persons. Its etiology is unknown. It can easily be confused with retinal detachment by the non-expert observer and in difficult cases even the expert may have difficulty differentiating the two. Such differentiation is important since retinal detachment almost always requires treatment while retinoschisis never itself requires treatment and leads to retinal detachment (and hence to visual loss) only occasionally. Unfortunately one still sees cases of uncomplicated retinoschisis treated by laser retinopexy or cryopexy in an attempt to stop its progression towards the macula. Such treatments are not only ineffective but unnecessary risk complications. There is no documented case in the literature of degenerative retinoschisis itself (as opposed to the occasional situation of retinal detachment complicating retinoschisis) in which the splitting of the retina has progressed through the fovea. There is no clinical utility in differentiating between typical and reticular retinoschisis. Degenerative retinoschisis is not known to be a genetically inherited condition. There is always vision loss in the region of the schisis as the sensory retina is separated from the ganglion layer. But like the loss is in the periphery, it goes unnoticed. It is the very rare schisis that encroaches on the macula where retinopexy is then properly used.^[2]

Hereditary Retinoschisis

It is estimated that this much less common form of retinoschisis affects one in 5,000 to 25,000 individuals, primarily young males. Schisis is derived from the Greek word meaning splitting, describing the splitting of the retinal layers from each other. However, schisis is a word fragment, and the term retinoschisis should be used, as should the term iridoschisis when describing splitting of the iris. If the retinoschisis involves the macula, then the high-resolution central area of vision used to view detail is lost, and this one form of macular disease. Although it might be described by some as a "degeneration", the term macular degeneration should be reserved for the specific disease "age-related macular degeneration".

Retinoschisis can be caused by an X-linked genetic defect, affecting the vision of men who inherit the disease from their unaffected carrier mothers. The genetic form of this disease usually starts during childhood and is called X-linked Juvenile Retinoschisis (XLRS) or Congenital Retinoschisis. Affected males are usually identified in grade school, but occasionally are identified as young infants.

Very few affected individuals go completely blind from retinoschisis, but some sufferers have very limited reading vision and are "legally blind". Visual acuity can be reduced to less than 20/200 in both eyes. Individuals affected by XLRS are at an increased risk for retinal detachment and eye hemorrhage, among other potential complications.

Retinoschisis causes acuity loss in the center of the visual field through the formation of tiny cysts in the retina, often forming a "spoke-wheel" pattern that can be very subtle. The cysts are usually only detectable by a trained clinician. In some cases vision cannot be improved by glasses, as the nerve tissue itself is damaged by these cysts.

The National Eye Institute (NEI) of the National Institutes of Health (NIH) is currently conducting clinical and genetic studies of X-Linked Juvenile Retinoschisis.^[3] This study is currently recruiting patients. A better understanding of why and how XLRS develops might lead to improved treatments. Males diagnosed with X-linked juvenile retinoschisis and females who are suspected carriers may be eligible to participate. In addition to giving a medical history and submitting medical records, participants submit a blood sample and the NEI will perform a genetic analysis. There is no cost to participate in this study.

Tractional Retinoschisis

This may be present in conditions causing traction on the retina especially at the macula.^[4] This may occur in: a) The vitreomacular traction syndrome; b) Proliferative diabetic retinopathy with vitreoretinal traction; c) Atypical cases of impending macular hole.

Exudative Retinoschisis

Retinoschisis involving the central part of the retina secondary to an optic disc pit was erroneously considered to be a serous retinal detachment until correctly described by Lincoff as retinoschisis. Significant visual loss may occur and following a period of observation for spontaneous resolution, treatment with temporal peripapillary laser photocoagulation followed by vitrectomy and gas injection followed by face-down positioning is very effective in treating this condition.^[5]

References

^ Cassin, B. and Solomon, S. Dictionary of Eye Terminology. Gainesville, Florida: Triad Publishing Company, 1990.
^ "Degenerative retinoschisis". Institut De La Vision. Retrieved 27 April 2015.
^ "Clinical and Genetic Studies of X-Linked Juvenile Retinoschisis - Full Text View". ClinicalTrials.gov. Retrieved 2012-12-15.
^ Faulborn, J; Ardjomand, N (January 2000). "Tractional retinoschisis in proliferative diabetic retinopathy: a histopathological study.". Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 238 (1): 40–4. doi:10.1007/s004170050007. PMID 10664051.
^ Pollack, AL; McDonald, HR; Johnson, RN; Ai, E; Irvine, AR; Lahey, JM; Lewis, H; Rodriguez, A; Ryan EH, Jr; Shields, CL (December 2002). "Peripheral retinoschisis and exudative retinal detachment in pars planitis.". Retina (Philadelphia, Pa.) 22 (6): 719–24. PMID 12476097.

External links

GeneReview/NCBI/NIH/UW entry on X-Linked Juvenile Retinoschisis
University of Michigan Kellogg Eye Center - Retinoschisis
MRCOpth retina cases - Retinoschisis
Foundation for Fighting Blindness - Retinoschisis
X-linked juvenile retinoschisis on Genetics Home Reference

UpToDate Contents

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English Journal

Abnormal Cone Structure in Foveal Schisis Cavities in X-Linked Retinoschisis from Mutations in Exon 6 of the RS1 Gene.

Duncan JL, Ratnam K, Birch DG, Sundquist SM, Lucero AS, Zhang Y, Meltzer M, Smaoui N, Roorda A.SourceDepartment of Ophthalmology, University of California at San Francisco, San Francisco, California;
Investigative ophthalmology & visual science.Invest Ophthalmol Vis Sci.2011 Dec 20;52(13):9614-23. Print 2011.
Purpose. To evaluate macular cone structure in patients with X-linked retinoschisis (XLRS) caused by mutations in exon 6 of the RS1 gene. Methods. High-resolution macular images were obtained with adaptive optics scanning laser ophthalmoscopy (AOSLO) and spectral domain optical coherence tomography
PMID 22110067

Enhanced Depth Imaging Optical Coherence Tomography of Deep Optic Nerve Complex Structures in Glaucoma.

Park SC, De Moraes CG, Teng CC, Tello C, Liebmann JM, Ritch R.SourceEinhorn Clinical Research Center, New York Eye and Ear Infirmary, New York, New York; Department of Ophthalmology, New York Medical College, Valhalla, New York.
Ophthalmology.Ophthalmology.2011 Oct 5. [Epub ahead of print]
OBJECTIVE: To assess the usefulness of enhanced depth imaging (EDI) optical coherence tomography (OCT) for evaluating deep structures of the optic nerve complex (ONC; optic nerve head and peripapillary structures) in glaucoma.DESIGN: Prospective, observational study.PARTICIPANTS: Seventy-three estab
PMID 21978593

Japanese Journal

Membrane tissue on the optic disc may cause macular schisis associated with a glaucomatous optic disc without optic disc pits

Takashina Saori,Saito Wataru,Noda Kousuke,Katai Maki,Ishida Susumu
Clinical Ophthalmology 7, 883-887, 2013-05-13
… This article reports a case of possible involvement of membrane tissue on the optic disc with macular schisis formation associated with glaucomatous optic disc without optic disc pits. … Visual acuity was 0.6 in his left eye, and funduscopy revealed macular schisis and a glaucomatous optic disc without optic disc pits. …
NAID 120005372291

網膜挙上性変化(裂孔原性/漿液性/牽引性網膜剝離,網膜分離症,脈絡膜腫瘍) (特集眼底所見のみかた考え方)

丸子一朗
眼科 54(3), 253-266, 2012-03
NAID 40019236997

Mutations in the RS1 gene in a Chinese family with X-linked juvenile retinoschisis

Hou Qiaofang,Chu Yan,Guo Qiannan,Wu Dong,Liao Shixiu
Intractable & Rare Diseases Research 1(1), 30-34, 2012
The purpose of our study was to identify the mutations in the retinoschisis 1 (RS1) gene, which was associated with X-linked retinoschisis (XLRS) in a four-generation Chinese family, and to provide th …
NAID 130003397529

Related Pictures

Retinoschisis, Juvenile | Hereditary Ocular Diseases Wat is een schisis? Molecular Vision: Lesch, Mol Vis 2008; 14:2321-2332. Figure 5 OCT Myopic Staphyloma With Schisis and ERM - Retina Image Bank Dayna Desireé Bartoli | Florafaunal Angiography Kinderen met schisis - multidisciplinair hulpprogramma Peru DRI OCT-1 Atlantis Case Report | Eye Care | TOPCON Lamellar Hole with Foveal Schisis

★リンクテーブル★

リンク元	「腹壁破裂」
拡張検索	「cranioschisis」「X-linked retinoschisis」「juvenile retinoschisis」

「腹壁破裂」

Retinoschisis
Classification and external resources
Specialty	ophthalmology
ICD-10	H33.1
ICD-9-CM	361.1
OMIM	312700
DiseasesDB	32603
eMedicine	article/1225857

　　[★]

schisis
英: gastroschisis
同？: 胃壁破裂、胃壁破裂症、胃壁裂
関: 臍帯ヘルニア、臍ヘルニア、Prune Belly症候群

[show details]

胃壁破裂 : 38 件
胃壁破裂症 : 60 件
腹壁破裂 : 約 6,670 件
胃壁裂 : 32 件

まとめ

PED.1067 SSUR.689 NSU.760

腹壁の欠損部が臍帯の側方に存在するために、腹腔内蔵機が被膜(羊膜)に被覆されずに露出する先天性の腹壁異常である。低体重児に多く、腸回転異常、メッケル憩室、腸閉鎖や腸穿孔を伴うことがあるが、臍帯ヘルニアと違い重症奇形の合併は稀である。低体温・脱水・感染などのリスクが高いために、緊急手術を要する。出生後搬送するときにはまず胃管挿入により消化管の減圧を図り、末梢血管を確保する(PED)。脱出腸管は透明な袋で覆い、腸管の状態を確認できるようにする。手術は一期的に腹壁を閉鎖するか、あるいは段階的に脱出腸管を完納していく方法がある。