Homocystinuria Treated With Pyridoxine

Blika, Sigmund; Saunte, Eldbjørg; Lunde, Hilde; Gjessing, L. R.; Ringvold, Amund

doi:10.1111/j.1755-3768.1982.tb00620.x

Acta Ophthalmologica

1982

DOI: 10.1111/j.1755-3768.1982.tb00620.x

|View full text |Cite

Homocystinuria Treated With Pyridoxine

Sigmund Blika¹,

Eldbjørg Saunte²,

Hilde Lunde³

et al.

Abstract: Four cases of homocystinuria with lens luxation have been examined. As judged from the plasma amino acid pattern, they all responded well on pyridoxine treatment. Two of them discontinued the treatment on their own, and one of these died at the age of 17 years. The lens luxation progressed in one case despite adequate treatment. Scanning electron microscopy of one lens revealed partly broken zonules, abnormal zonular attachment, and a spongy appearance of the capsule proper. Hoping that adequate treatment will… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...

Citation Types

Supporting

Mentioning

Contrasting

Year Published

1984

1998

Publication Types

Select...

Article3

Relationship

Self Cite0

Independent3

Authors

Journals

Cited by 3 publications

References 19 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

Ocular complications and a new surgical approach to lens dislocation in homocystinuria due to cystathionine-β-synthetase deficiency

Gerding

1998

Eur J Pediatr

View full text Add to dashboard Cite

The ocular findings in patients with homocystinuria due to cystathionine-beta-synthetase (CBS) deficiency are reviewed and a new approach to lens surgery is presented. Lens surgery in CBS deficiency was reported to be accompanied by a high risk of secondary complications like vitreal prolapse and retinal detachment. So far an operative procedure for these patients that allows a complete preservation of the anterior vitreous cortex, the posterior lens capsule and an implantation of an artificial lens is not established. A minimal invasive method of lens surgery was developed in vitro and applied in the case of a 10-year-old patient with an uncorrectable refractive situation due to progressed lens dislocation. Principle steps of the evolved operative procedure are (1) visco-elastic stabilization of the anterior chamber; (2) small (1.5 mm) peripheral capsulorhexis; (3) manual endocapsular aspiration of lens material and removal of lens epithelium; (4) ab externo introduction of a transcleral fixation suture; (5) positioning of the haptic into the ciliary sulcus in the inferior position; (6) resection of the anterior lens capsule; and (7) positioning of the second haptic into the ciliary sulcus. The first patient treated according to this method presented a stable position of the pseudophakos during the follow up of 1 year. Visual acuity improved from a level of 20/200 (O.D.) and 10/200 (O.S.) to 18/20 in both eyes. The surgical procedure presented in this report seems to be useful for dealing with dislocated lenses due to zonular deficiency in patients with CBS deficiency and hopefully with Marfan disease. It allows a minimal invasive removal of the lens, a complete preservation of the anterior vitreous cortex and at the same time a stable fixation of an artificial intraocular lens.

show abstract

Ocular complications and a new surgical approach to lens dislocation in homocystinuria due to cystathionine-β-synthetase deficiency

Gerding

1998

Eur J Pediatr

View full text Add to dashboard Cite

show abstract

Lens Subluxation in Homocystinuria

Hayasaka

Asano

Tateda

et al. 1984

Acta Ophthalmologica

View full text Add to dashboard Cite

A 6-year-old girl had bilaterally subluxated lenses and liver and platelet dysfunctions. A cyanide-nitroprusside test of the urine was positive. Serum and urinary levels of methionine and homocystine were high. Cystathionine synthetase activity in the cultured skin fibroblasts was negligible. Pyridoxine, 1000 mg/day orally, normalized the serum and urinary methionine and homocystine levels and the liver and platelet functions. Episodes of pupillary block glaucoma prompted lens extraction. The subluxated lenses were extracted under general anaesthesia after administration of pyridoxine and dextran to avoid thrombosis. A good result without serious complications was obtained. We believe that homocystinuria should not be considered a contra-indication to general anaesthesia. In the pyridoxine-responsive patient general anaesthesia is not hazardous if platelet function can be controlled by the vitamin.

show abstract

Delay in diagnosis of homocystinuria: retrospective study of consecutive patients

Cruysberg

Boers

Trijbels

et al. 1996

BMJ

View full text Add to dashboard Cite

Three factors should have precipitated the diagnosis of homocystinuria: early recognition that unusual myopia (high, very high, abnormal progressive, or at young age) was caused by subluxation of the ocular lenses; awareness that the occurrence of myopia combined with systemic complications ("myopia plus") might be due to homocystinuria; and appropriate biochemical investigations carried out in patients with ectopia lentis and in their siblings.

show abstract

scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.

Contact Info

hi@scite.ai

10624 S. Eastern Ave., Ste. A-614

Henderson, NV 89052, USA

Blog Terms and Conditions API Terms Privacy Policy Contact Cookie Preferences Do Not Sell or Share My Personal Information

Made with 💙 for researchers

Part of the Research Solutions Family.

Homocystinuria Treated With Pyridoxine

Cited by 3 publications

References 19 publications

Ocular complications and a new surgical approach to lens dislocation in homocystinuria due to cystathionine-β-synthetase deficiency

Ocular complications and a new surgical approach to lens dislocation in homocystinuria due to cystathionine-β-synthetase deficiency

Lens Subluxation in Homocystinuria

Delay in diagnosis of homocystinuria: retrospective study of consecutive patients

Contact Info

Product

Resources

About