Registered blindness and low vision in Kuwait.

AIM: To estimate the incidence rates and major causes of registered blindness and low vision in Kuwait. METHODS: Data on age, gender and cause of blindness and low vision were collected from the Visual Disability Committee while evaluating Kuwaiti citizens applying for a blindness allowance from January 2000 to December 2004. Criteria for legal blindness in Kuwait are visual acuity 6/60 or less in the better eye with best possible correction or a visual field less than 20 degrees around the central fixation point. Incidence rates per 100,000 person years of observation were calculated for both genders in four age subgroups and four severity categories. The causes of registered blindness were classified according to the International Classification of Diseases, 10th edition. RESULTS: 412 persons were registered as blind, 272 males (66.01%) and 140 females (33.98%), mean age 28.7 +/-25.2 years, 39.32% below 20 years of age, 31.79% 21-40 years, 18.68% 41-60 years, and 9.95% 61 years and over . Male gender was prevalent for all age subgroups. The overall incidence rate was 9.97 per 100,000 person years of observation, 13.33 for the male and 6.69 for the female patients. The incidence rates rose from 7.35 for those 20 years and younger to 14.80 for the age subgroup 41-60 and 23.16 for those 61 years and above. The rates of severe visual impairment classified in categories 4 and 5 were higher than the rates for categories 2 and 3. Retinitis pigmentosa was the leading cause of blindness, followed by congenital anomalies and optic atrophy. In the subgroup below 20 the rate of optic atrophy was highest, followed by congenital malformations, retinitis pigmentosa and retinopathy of prematurity. In the next age subgroup (21-40 years), the rate of retinitis pigmentosa was three times as high as in the younger subgroup, followed by optic atrophy, congenital malformations and albinism. In the subgroup 41-60 the incidence rate for phthisis bulbi was twice as high as the rates for retinitis pigmentosa and optic atrophy. For those 61 years and older, the incidence rate of phthisis bulbi was almost five times as high as that for optic atrophy. The incidence rates for the male patients were higher for the major causes of disability in all age subgroups. CONCLUSIONS: The overall incidence rate of registered blindness for Kuwait is less than in many other national registries. The marked prevalence of the male gender in all age subgroups is specific for Kuwait. The rates of the leading causes of registered blindness reflect the prevalence of the younger subgroups in our registry. Additional data on co-morbidity and dedicated efforts to reveal unrecognized and unregistered blindness, particularly among females, will overcome the limitations of the registry, and will serve to outline the tendencies in avoidable vision loss and monitor the efficacy of the prevention programs in the future.

Primary hepatic carcinoid tumor.

OBJECTIVES: To describe a rare case of primary carcinoid tumor of the liver and its management. CLINICAL PRESENTATION AND INTERVENTIONS: A 44-year-old Nigerian male presented with a big inoperable liver mass, which proved to be a carcinoid tumor by fine needle aspiration cytology. Extensive search for a primary lesion including laparotomy and peroperative ultrasound failed to find a primary lesion in the gastrointestinal tract and pancreas. Percutaneous embolization of the tumor followed by complete dearterializations of the liver seemed to have halted the growth of the tumor. The patient remained well with normal liver function tests for 56 months when he decided to go back to his country. CONCLUSION: The result showed that dearterializations of a primary inoperable carcinoid of the liver offered good palliation.

Bartter's syndrome in Arabic children: review of 13 cases.

BACKGROUND: Bartter's syndrome (BS) is an inherited disease of renal potassium wasting characterized by hypokalemic alkalosis, normal blood pressure, vascular insensitivity to pressor agents and elevated plasma concentrations of renin and aldosterone. It is caused by generalized hyperplasia of the juxtaglomerular apparatus at the site of renin production caused by mutations in the Na-K-2Cl cotransporter gene, NKCC2. The objective of our study is to establish the prevalence and incidence of BS in Kuwait and to assess treatment modalities for it. METHODS AND RESULTS: Bartter's syndrome was diagnosed in 13 Kuwaiti children over a 14 year period (1981-1995) with the estimated incidence of 1.7/100,000 live births. The mean age at diagnosis was 9.3 months (range 2-32 months). There were five males and eight females (ratio 1:1.6). The mean duration of follow up was 5.6 years (1-14 years). Both consanguinity and familial history among our patients were high (69 and 54%, respectively). All patients had hypokalemia, hypochloremia with metabolic alkalosis, hyperreninemia and were normotensive. Clinical presentation was essentially similar to that in other series. Eleven patients (85%) had growth failure, two had nephrocalcinosis (15%) and one had renal failure. All patients were treated with supplemental potassium, an aldosterone antagonist (spironolactone) and a prostaglandin synthetase inhibitor (indomethacin or aspirin) sequentially. Significant catch-up of growth (four patients) and increases in serum potassium (eight patients) were recorded after administration of indomethacin therapy. One patient died of severe pneumonia with respiratory failure from hypokalemic myopathy. Clinical presentation, inheritance, complications and therapy of BS are briefly discussed. CONCLUSION: Bartter's syndrome is a rare disease, but should be considered in the differential diagnosis of other disorders with growth failure and/or hypokalemia. Early diagnosis, close follow up and compliance with treatment may lead to appropriate growth and development.

Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait.

Congenital chloride diarrhea (CLD) is an inherited intestinal disorder caused by mutations in the down-regulated in adenoma gene. In Finland, the disease is prevalent because of a founder effect, and all but one of the CLD-associated chromosomes carry the same mutation, V317del. In Poland, another area with a high incidence of CLD, as many as seven different mutations have been detected so far. A third known cluster of CLD, around the Persian Gulf, has not been genetically studied. We studied the allelic diversity of CLD in Poland, in Saudi Arabia and Kuwait, and in three isolated families from North America and Hong Kong. Altogether, eight novel mutations were identified, making a total of 19 known CLD gene mutations. The Polish major mutation I675-676ins was found in 47% of the Polish CLD-associated chromosomes. Haplotype analysis and clustering of the I675-676ins mutation supported a founder effect and common ancestral origin. As in Finland, a major founder effect was observed in Arab patients: 94% of the CLD-associated chromosomes carried a nonsense mutation, G187X, which occurred in either a conserved ancestral haplotype or its derivative. Our data confirm that the same locus is mutated in all cases of CLD studied so far. In Poland, a relatively common founder mutation is likely to highlight a set of rare mutations that would very rarely produce homozygosity alone. This suggests that mutations in the CLD locus are not rare events. Although the disease is thought to be rare, undiagnosed patients may not be uncommon.

Genotypic/phenotypic heterogeneity of selective vitamin B12 malabsorption (Grasbeck-Imerslund syndrome) in two Bedouin families.

We report on seven patients in two unrelated consanguineous Bedouin families with Grasbeck-Imerslund syndrome. Pedigree analysis in Family 1 was suggestive of an X-linked mode of inheritance. Intra- and inter-familial heterogeneity was elicited among the affected children in both families. Two of the affected sibs in each family had raised Hb A2 (>4%) while a third in Family 1 had a raised level of Hb F before treatment. One of the patients developed subacute combined degeneration of the cord at the age of 17 years before the correct diagnosis was made. All abnormalities were corrected following the institution of parenteral cobalamin therapy.

Late diagnosis of phenylketonuria in a Bedouin mother.

We report on the first case of phenylketonuria in a Bedouin woman with 3 children having the phenylketonuria embryofetopathy. Herein, we discuss briefly hazards of late diagnosis of maternal phenylketonuria.