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West Indian med. j ; 50(3): 28, July, 2001.
Artigo em Inglês | MedCarib | ID: med-215


Over the past 5 years, the genes responsible for several early-onset macular degeneration have been identified. Recent disorders include the genes responsible for autosomal recessive and dominant Stargardt disease, Sorsby fundus dystrophy, Best disease, and Mallatia Leventinese, also known as autosomal dominant drusen or Doyne honeycomb macular dystrophy. Significant attention has been focused on the gene responsible autosomal recessive Stargardt disease. Mutations in this gene, known as ABCA4 and formerly referred to as ABCR, are the most common cause of retinal degenerations so far identified. Different mutations in this gene have been associated not only with Stargardt disease, but also with cone-rod dystrophy, retinitis pigmentosa, and age-related macular degeneration (AMD). The relationship between the ABCA4 gene and AMD is highly controversial. The controversy is not whether AMD is an inherited disorder, but whether the ABCA4 gene plays a significant role in AMD inheritance. The data from population and family studies, particularly in identical twin studies, strongly support a role for heredity in AMD. Moreover, recent results from the Genetics of Age-Related Maculopathy (GARM) Study, a multicentre collaborative effort designed to identify the genes responsible for AMD, have revealed 6 chromosomal loci that are likely to contain the majority of genes responsible for AMD. The unexpected result from this study is that the genes responsible for the early-onset macular degenerations are not located at any of these chromosomal loci. Therefore, It seems likely that these early-onset genes will not have a significant role in causing the late-onset condition. (AU)

Humanos , Degeneração Macular/genética , Genes Precoces/genética , Transcrição Genética/genética , Degeneração Retiniana/genética , Retinite Pigmentosa/genética
West Indian med. j ; 50(3): 27, July, 2001.
Artigo em Inglês | MedCarib | ID: med-217


The 810 nm diode laser has many properties and applications that make it particularly suitable for use in opthalmic laser/surgical centres in the Caribbean. Microplus, subthreshold pan-retinal photocoagulation allows laser treatment for proliferative diabetic retinopathy and Central Retinal Vein Occlusion (CRVO) to be completed in a single treatment session. This is essential for patients who travel a great distance for treatment, or in whom compliance is an issue. Laser-induced chorio-retinal shunt is a possible treatment for CRVO. Trans-scleral diopexy is more effective than cryotherapy for treating peripheral retinal tears, and does not require the expense and maintenance necessitated by the use of gas cylinders. Age-related macular degeneration (ARMD) is much more common in the Caribbean than previously thought. Transpupillary thermotherapy for exudative ARMD and prophylactic grid treatment for dry ARMD are effective treatments that do not require expensive drugs and their associated side effects. Diode laser trans-scleral cyclophotocoagulation is an effective out-patient, non-surgical procedure for controlling glaucoma in patients who have failed medical management or for whom cost or a compliance issue makes medical management impractical. The size and portability of the diode laser is ideal for use and travel between different offices and surgical suites. (AU)

Humanos , Terapia a Laser/estatística & dados numéricos , Região do Caribe , Degeneração Macular/terapia , Fotocoagulação/estatística & dados numéricos
West Indian med. j ; 50(3): 14, July, 2001.
Artigo em Inglês | MedCarib | ID: med-259


Diabetic Macular odema, defined as retinal thickening within a one disc diameter of the centre of the macular, is present in about 10 percent of all patients with diabetes mellitus, and is one of the major potential threats to vision from diabetic retinopathy. The odema may be focal, with leakage primarily from retinal capillary microaneurysms and often associated with hard exudate rings, or diffuse, with wide spread leakage from diffusely dialated capillaries, typically with a cystoid pattern of odema. The importance of recognizing retinal thickening as the diagnostic hallmark of macular odema will be emphasized, and examination techniques to detect retinal thickening will be reviewed. The laser treatment guidelines for clinically significant macular odema recommended by the Early Treatment Diabetic Retinopathy Study (ETDRS), and the preferred methods of administering that treatment, will be described. Options for management of persistent macular odema if the initial laser treatment fails will be discussed, including the use of diamox and others diuretics in the management of selected cases. (AU)

Humanos , Degeneração Macular , Retinopatia Diabética , Retinopatia Diabética/complicações , Retinopatia Diabética/terapia