Infantile Vitreous Hemorrhage as the Initial Presentation of X-linked Juvenile Retinoschisis

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Abstract

The authors report two cases of X-linked juvenile retinoschisis (XLRS) manifested as bilateral vitreous hemorrhage as early as in an 1-month-old infant and in a 3-month-old infant. The one-month-old male infant showed massive bilateral vitreous hemorrhage. During vitrectomy, thin membrane representing an inner part of schisis cavity was excised and intraschisis hemorrhage was evacuated. As intraschisis cavities were cleared, the stump of inner layer appeared as the demarcation line between the outer layer of the schisis retina and non-schisis retina. The other three-month-old male infant presenting with esodeviation also showed bilateral vitreous hemorrhage. Typical bilateral retinoschisis involving maculae could be seen through vitreous hemorrhage in both eyes on fundus examination. Spontaneous absorption of hemorrhage was observed on regular follow-up. XLRS could be manifested as massive hemorrhage inside or outside of the schisis cavity early in infancy.

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Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium.

(1998)

X-linked retinoschisis (XLRS) is the most common cause of juvenile macular degeneration in males, resulting in vision loss early in life. The gene involved in XLRS was identified recently. It encodes a protein with a disoidin domain, suggested to be involved in cell-cell interactions. We have screened the gene for mutations in 234 familial and sporadic retinoschisis cases and identified 82 different mutations in 214 (91%). Thirty one mutations were found more than once, i.e. 2-10 times, with the exception of the 214G-->A mutation which was found in 34 apparently unrelated cases. The origin of the patients, the linkage data and the site of the mutations (mainly CG dinucleotides) indicate that most recurrent mutations had independent origins and thus suggest the existence of a significant new mutation rate in XLRS1. The mutations identified cover the entire spectrum, from small intra-genic deletions (7%), to nonsense (6%), missense (75%), small frameshifting insertions/deletions (6%) and splice site mutations (6%). Since, regardless of the mutation type, no females with a typical RS phenotype were identified, RS seems to be caused by loss-of-function mutations only. Mutations occurred non-randomly, with hotspots at several CG dinucleotides and a C6stretch. Exons 1-3 contained few, mainly translation-truncating mutations, arguing against an important functional role for this segment of the protein. Exons 4-6, encoding the discoidin domain, contained most, mainly missense mutations. An alignment of 32 discoidin domain proteins was constructed to reveal the consensus sequence and to deduce the functional importance of the missense mutations identified. The mutation analysis revealed a high preponderance of mutations involving or creating cysteine residues, pointing to sites important for the tertiary folding and/or protein function, and highlights several amino acids which may be involved in XLRS1-specific protein-protein interactions. Despite the enormous mutation heterogeneity, patients have relatively uniform clinical manifestations although with great intra-familial variation in age at onset and progression.

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Infantile presentation of X linked retinoschisis.

Bill J. Yates, Kerryn Moore, T. K. Bradshaw … (1995)

Five infants who presented with nystagmus and/or strabismus were found to have bilateral highly elevated bullous retinoschisis involving the macula. Haemorrhage was present within the schisis cavity or the vitreous in four patients. The bullous retinoschisis eventually reattached spontaneously leaving pigment demarcation lines. A family history of X linked retinoschisis (XLRS) was known in two of the patients but in the other three subsequent investigation showed other male family members to be affected. It is important to recognise this uncommon presentation of XLRS so that the correct diagnosis is made and appropriate genetic counselling is given. Surgical treatment is not usually indicated and the visual prognosis is better than the initial appearance may suggest.

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Vitreous hemorrhage as the initial manifestation of X-linked retinoschisis in a 9-month-old infant.

Archna Prasad, Rudolph Wagner, Neelakshi Bhagat (2016)

A 9-month-old infant presented with progressive esotropia, bilateral vitreous hemorrhages, bullous retinoschises, and peripheral retinal detachments. X-linked retinoschisis was diagnosed on the basis of electroretinogram findings. We report a case of vitreous hemorrhage as the initial presentation of X-linked retinoschisis in one of the youngest patients discussed in the literature.

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Author and article information

Journal

Journal ID (nlm-ta): Korean J Ophthalmol

Journal ID (publisher-id): KJO

Title: Korean Journal of Ophthalmology : KJO

Publisher: The Korean Ophthalmological Society

ISSN (Print): 1011-8942

Publication date (Print): June 2009

Publication date (Electronic): 09 June 2009

Volume: 23

Issue: 2

Pages: 118-120

Affiliations

[1 ]Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Korea.

[2 ]Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea.

[3 ]Seoul Artificial Eye Center, Clinical Research Institute, Seoul National University Hospital, Seoul, Korea.

Author notes

Reprint requests to Young Suk Yu, MD, PhD. Department of Ophthalmology, Seoul National University Hospital, #28 Yeongeon-dong, Jongno-gu, Seoul 110-744, Korea. Tel: 82-2-2072-2438, Fax: 82-2-741-3187, ysyu@ 123456snu.ac.kr

Article

DOI: 10.3341/kjo.2009.23.2.118

PMC ID: 2694289

PubMed ID: 19568363

SO-VID: 9a0708f4-3bc5-4440-b9c9-81f98dafc471

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This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Infantile Vitreous Hemorrhage as the Initial Presentation of X-linked Juvenile Retinoschisis

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Karger: Ophthalmology

Most cited references 7

Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium.

Infantile presentation of X linked retinoschisis.

Vitreous hemorrhage as the initial manifestation of X-linked retinoschisis in a 9-month-old infant.

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