BACKGROUNDA Chinese family with autosomal dominant central areolar choroidal dystrophy (CACD) was identified. The purpose of this study was to collect the clinical findings from the family and to identify the genetic entity by linkage analysis.

METHODSForty-three individuals from 3 generations of the family underwent ophthalmologic examinations, including best-corrected visual acuity, examination of the anterior segments, and inspection of the ocular fundus after pharmacologic mydriasis. Affected family members further underwent color vision test, color fundus photography, fluorescein angiography, automated perimetry, and electroretinography. The family was followed up for 30 months. Peripheral venous blood or buccal swabs were collected from each family member and genomic DNA was extracted. Linkage analysis was performed for candidate genes or loci using microsatellite markers.

RESULTSSeven family members in 3 continuous generations were diagnosed as having autosomal dominant CACD. The family showed progressive development of the disease, affecting both male and female. Age of onset of visual disturbances varied between 11 and 50 years. Phenotypic variability among affected individuals was apparent and ranged from relatively normal-appearing fundus with mild parafoveal pigment mottling to geographic atrophy of the macula. Fluorescein angiography showed hyperfluorescent parafoveal changes in early stage or well-demarcated area of chorioretinal atrophy with enhanced visibility of the residual underlying choroidal vessels in the late stage. Peripheral retina and visual fields were normal in affected individuals. Electroretinogram showed normal or mild reduction in the photopic amplitude. Eight candidate genes (STGD4, RCD1, peripherin/RDS, GUCA1A, RIMS1, UNC119, GUCY2D, and AIPL1) and two genetic loci (4p15.2 - 16.3, and 17p13) were excluded to be responsible for the disease by linkage analysis.

CONCLUSIONSThe clinical findings of this Chinese family with CACD shared similarities with previously reported families of other ethnicities. Linkage analysis excluded the known genes and genetic loci, indicating genetic heterogeneity of the disease.

Adolescent ; Adult ; Child ; Choroid Diseases ; genetics ; Electroretinography ; Female ; Fluorescein Angiography ; Genetic Linkage ; Humans ; Male ; Middle Aged

OBJECTIVETo understand the perception for the use of cataract surgical services in a population of acceptors and non-acceptors of cataract surgery in urban Beijing.

METHODSFrom a community-based screening program a total of 158 patients with presenting visual acuity of less than 6/18 on either eye due to age-related cataract were informed about the possibility of surgical treatment. These patients were interviewed and re-examined 36 to 46 months after initial screening. The main reasons for not accepting surgery were obtained using a questionnaire. Vision function and vision-related quality of life scores were assessed in those who received and did not receive surgery.

RESULTSAt the follow-up examination 116 of the 158 patients were available and 36 (31.0%) had undergone cataract surgery. Cases who chose surgery had higher education level than those who did not seek surgery (OR=2.64, 95% CI: 1.08-6.63, P=0.02). There were no significant differences in vision function (P=0.11) or quality of life scores (P=0.16) between the surgery group and the non-surgery group. Main reasons for not having surgery included no perceived need (50.0%), feeling of being "too old" (19.2%), and worry about the quality of surgery (9.6%). Cost was cited by 1 (1.9%) subject as the main reason for not seeking surgery.

CONCLUSIONSThe data suggest that in China's capital urban center for patients with moderate visual impairment there is a relative low acceptance rate of cataract surgery, mainly due to people's perception of marginal benefits of surgery. Cost is not a determining factor as barrier to undergo surgery and patients with poorer education are less likely to undertake surgery.

Aged ; Aging ; pathology ; Animals ; Cataract ; complications ; physiopathology ; Cataract Extraction ; utilization ; China ; Female ; Follow-Up Studies ; Humans ; Male ; Urban Population ; Vision Disorders ; etiology ; physiopathology

OBJECTIVETo identify the possible association between C(-106)T polymorphism of the aldose reductase (ALR) gene and diabetic retinopathy (DR) in a cohort of Chinese patients with type 2 diabetes mellitus (T2DM).

METHODSFrom November 2009 to September 2010, patients with T2DM were recruited and assigned to DR group or diabetic without retinopathy (DWR) group according to the duration of diabetes and the grading of 7-field fundus color photographs of both eyes. Genotypes of the C(-106)T polymorphism (rs759853) in ALR gene were analyzed using the MassARRAY genotyping system and an association study was performed.

RESULTSA total of 268 T2DM patients (129 in the DR group and 139 in the DWR group) were included in this study. No statistically significant differences were observed between the 2 groups in the age of diabetes onset (P=0.10) and gender (P=0.78). The success rate of genotyping for the study subjects was 99.6% (267/268), with one case of failure in the DR group. The frequencies of the T allele in the C(-106)T polymorphism were 16.0% (41/256) in the DR group and 19.4% (54/278) in the DWR group (P=0.36). There was no significant difference in the C(-106)T genotypes between the 2 groups (P=0.40). Compared with the wild-type genotype, odds ratio (OR) for the risk of DR was 0.7 (95% CI, 0.38-1.3) for the heterozygous CT genotype and 0.76 (95% CI, 0.18-3.25) for the homozygous TT genotype. The risk of DR was positively associated with microalbuminuria (OR=4.61; 95% CI, 2.34-9.05) and insulin therapy (OR=3.43; 95% CI, 1.94-6.09).

CONCLUSIONSMicroalbuminuria and insulin therapy are associated with the risk of DR in Chinese patients with T2DM. C(-106)T polymorphism of the ALR gene may not be significantly associated with DR in Chinese patients with T2DM.

Albuminuria ; epidemiology ; urine ; Aldehyde Reductase ; genetics ; Asian Continental Ancestry Group ; China ; Cohort Studies ; Diabetes Mellitus, Type 2 ; complications ; drug therapy ; ethnology ; genetics ; Diabetic Retinopathy ; drug therapy ; ethnology ; etiology ; genetics ; Female ; Gene Frequency ; Humans ; Hypoglycemic Agents ; administration & dosage ; adverse effects ; therapeutic use ; Insulin ; administration & dosage ; adverse effects ; therapeutic use ; Logistic Models ; Male ; Multivariate Analysis ; Polymorphism, Single Nucleotide ; Risk