Stickler syndrome associated with congenital glaucoma

Department of Paediatric Ophthalmology, Strabismus, and Neuro-ophthalmology, Jasti V Ramanamma Children's Eye Care Centre, LV Prasad Eye Institute, KAR Campus, Hyderabad, India.
The Lancet (Impact Factor: 45.22). 02/2013; 381(9864):422. DOI: 10.1016/S0140-6736(12)61813-3
Source: PubMed
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    ABSTRACT: Summary Background: We undertook this study to demonstrate the incidence of vitreoretinal dystrophies in a Mexican population. Methods: This was a retrospective, observational, descriptive and transversal study. We analyzed the files of patients treated at the Retina Department in a medical center for state employees (ISSSTE) from January 1991 to December 2006 to obtain the incidence of vitreoretinal dystrophies. Results: We studied 36,300 patient files. We found an incidence of 0.008 % for familial exudative vitreoretinal dystrophy, 0.008 % for X-linked juvenile retinoschisis, 0.005 % for Wagner disease and 0.005 % for Goldmann-Favre disease. We present here a representative case of each type of dystrophy. Conclusions: Vitreoretinal dystrophies are uncommon diseases and are difficult to diagnose. Even though they have a low incidence, the poor evolution to blindness requires identification of early signs in order to offer timely and opportune treatment.
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    ABSTRACT: Although the presence of 'cartilage-specific' collagens in the eye has been documented earlier, very little is known about their synthesis rates during ocular development, growth and aging. The purpose of the present study was to follow changes in the mRNA levels and distribution of key components of the extracellular matrix in the eyes of normal and transgenic Del1 mice, harboring a short deletion mutation in the type II collagen gene, during ocular growth and aging. Total RNAs extracted from mouse eyes were studied by Northern analysis for mRNA levels of type I, II, III, VI, IX and XI collagens, biglycan, fibromodulin and decorin. A predominant finding of the present study was the marked reduction in the mRNA levels of type I and II collagens in the eye upon aging. The changes in the mRNA levels of type III and VI collagen and proteoglycans were smaller. Localization of type II and IX collagen in the eye was performed by immunohistochemistry. Despite the reduction in the type II collagen mRNA levels, immunohistochemistry confirmed widespread distribution of the protein also in aging mouse eyes, suggesting its slow turnover. Although the Del1 mutation caused gradual degenerative lesions in the eyes, the distribution of the protein remained essentially unchanged. The widespread distribution and marked downregulation of type II collagen production in the mouse eye upon aging probably explain the gradual development of degenerative lesions, particularly in the eyes of transgenic Del1 mice, where production of mutant type II collagen chains also contributes to the process.
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    ABSTRACT: To determine the long term outcome of secondary glaucoma following retinal reattachment surgery. A longitudinal retrospective study was undertaken of the medical records of patients referred to the Glaucoma Service at Moorfields Eye Hospital following retinal reattachment surgery. The main outcome measures were final intraocular pressure (IOP), progression in cup:disc ratio, and final visual acuity outcome. A total of 70 eyes of 70 patients (41 males and 29 females) were identified and included in the analysis. Mean increase of IOP 2-3 weeks following the first vitreoretinal procedure was 6 (SD 3) mm Hg. After a mean follow up of approximately 4 years the mean IOP had significantly decreased from 33 (SD 10) to 16 (SD 8) mm Hg (p<0.001). The visual outcome of eyes with final IOP less than 6 or greater than 21 mm Hg was significantly worse compared with those eyes with a normal (6-21 mm Hg) range of pressure (p = 0.022 and p = 0.009 respectively). Despite the effective control of IOP in the majority of patients during the follow up period, there was mild progression of the mean vertical cup:disc ratio from 0.6 (SD 0.2) to 0.7 (SD 0.2) (p<0.001). Secondary glaucoma is a major complication following retinal reattachment surgery. Medical treatment is successful in lowering IOP in most patients. In persisting cases surgical treatment is very effective, however it can be associated with an increased risk of postoperative hypotony. Despite apparently adequate IOP control there may be progressive cupping of the optic disc.
    Full-text · Article · Mar 2004 · British Journal of Ophthalmology
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