Changes in retinal sensitivity within central 30 degrees following panretinal photocoagulation (PRP) for more severe diabetic retinopathy were investigated. Twenty-five eyes with visual acuity of 0.4 or better and minimal maculopathy were studied prospectively. All underwent PRP in two sittings, and Humphrey field analyzer 30-2 threshold test was done before and 1 week, 1 and 3 months after the treatment. The mean retinal sensitivity threshold was obtained from each hemifield between 15 and 30 degrees and from the central 15 degree area, and the changes in the values were analyzed. Mean sensitivity threshold in the upper visual field at pre-PRP, post-PRP 1 week, 1, 3 months were 15.62, 13.81, 14.31, 14.85, respectively. Values in the lower field were 18.71, 17.25, 17.10, 18.17. Difference between pre-PRP and post-PRP was statistically significant at 1 week but no longer thereafter. Retinal sensitivity within the central 15 degrees remained stable. The data show that retinal sensitivity decreases significantly 1 week after PRP but recovers upto 95% of pre-PRP level over the following 3 months.
Adult ; Aged ; Diabetic Retinopathy/*physiopathology/surgery ; Female ; Follow-Up Studies ; Humans ; *Laser Coagulation ; Male ; Middle Aged ; Prospective Studies ; Retina/*physiopathology ; Sensory Thresholds ; Visual Acuity/physiology ; Visual Fields/*physiology

More than 6,000 rare disorders including genetic diseases have been reported. Of them, 1,500 diseases (1,211 for clinical diagnosis and 289 for research only) are technically possible for genetic testing. In Korea, since 2005, only 63 genetic diseases is permitted for prenatal genetic testing by the "Bioethics and Biosafety Law". The article 25 in the law prescribes 63 genetic diseases without clear indication for its selection and inclusion criteria. In EU, USA, and other foreign countries, however, there is no provision in the statute on prenatal genetic testing; it is not restricted by a law. Recently, a woman (Mrs. L, 38y) who is a carrier for Menkes disease made an appeal to a government for an amendment of the "Bioethics and Biosafety Law" prohibiting the prenatal diagnosis of her pregnancy at risk for Menkes disease. Menkes disease (MNK) is an X-linked recessive disorder characterized by neurodegeneration, connective tissue defects and hair abnormalities, and no effective treatment is available yet. The prevalence rate of MNK is one in about 250,000 live births. Menkes syndrome patients fail to absorb copper from the gastrointestinal tract in quantities adequate for meeting nutritional needs. These needs seem particularly acute during the initial 12 month of life, when the velocity of brain growth and motor neurodevelopment. Most of pts. die around 3yrs. of age. Mrs. L had a boy with Menkes disease who died at 2y.o. in 2001. Subsequent pregnancy in 2003, she was able to have prenatal genetic testing for mutation of the Menkes (ATP7A) gene and delivered a healthy baby boy. Now, She is pregnant again and wants to have prenatal diagnosis. however, this time, she was not allowed to have any more because Menkes disease is not included in 63 genetic diseases permitted by the law for prenatal genetic testing, in spite of the fact that she is a Menkes disease carrier and her pregnancy is at risk to have an affected baby. This case shows the practical problem of the legal restriction for prenatal genetic testing in Korea. In this study, we report a arguable case and discuss the controversial issues in the legal restriction for prenatal genetic testing in Korea.
Brain ; Connective Tissue ; Copper ; Diagnosis ; Female ; Gastrointestinal Tract ; Genetic Testing* ; Hair ; Humans ; Jurisprudence ; Korea* ; Live Birth ; Male ; Menkes Kinky Hair Syndrome ; Pregnancy ; Prenatal Diagnosis ; Prevalence

We performed suture tension adjustment (STA) in 8 patients who had undergone penetrating keratoplasty with 10-0 nylon running suture closure. 3 to 8 weeks after the surgery, STA was done by loosening the suture tension at the steep meridian and tightening at the flat meridian, guided by automatic keratometery, keratoscopic finding and manifest refraction. Pre-STA astigmatism of 6.27 +/- 1.84 diopter(D) was changed to 1.94 +/- 1.40D immediately after the adjustment. Post-STA astigmatism regressed mostly within two weeks of adjustment, remaining stable thereafter: In one case, suture breakage occurred during adjustment, and resuturing was done using a new 10-0 nylon tied to the broken ends without serious sequela.
Astigmatism ; Humans ; Keratoplasty, Penetrating* ; Nylons ; Running* ; Sutures*

PURPOSE: Fragile X syndrome (FXS) is the most common heritable cause of cognitive impairment. FXS is caused by hyperexpansion and hypermethylation of a polymorphic CGG trinucleotide repeat in the 5' untranslated region of the fragile X mental retadation-1(FMR1) gene. Combination of Southern blotting and simple polymerase chain reaction(PCR) amplification of the FMR1 repeat region is commonly used for diagnosis in females. To give a definite diagnosis in a female child suspected of having FXS, we carried out the molecular diagnostic test for FXS using the recently developed Abbott Molecular Fragile X PCR Kit. METHODS: The PCR amplification of the FMR1 repeat region was performed using the Abbott Mdecular Fragile X PCR Kit. The amplified products were analyzed by size-separate analysis on 1.5% agarose gels and by DNA fragment analysis using Gene scan. RESULTS: Agarose gel and Gene scan analyses of PCR products of the FMR1 repeat region showed that the patient had two heterozygous alleles with a normal 30 repeats and full mutation of >200 repeats whereas her mother had two heterozygous alleles with the normal 30 repeats and premutation of 108 repeats, suggesting that the premutation of 108 repeats in her mother may have led to the full mutation of >200 repeats in the patient. CONCLUSION: We diagnosed FXS in a female patient using a simplified molecular diagnostic test. This commercially available diagnostic test for FXS, based on PCR, may be a suitable alternative or complement method to Southern blot analysis and PCR analysis and/or methylation specific(MS)-PCR analysis for the molecular diagnosis of FXS in both males and females.
5' Untranslated Regions ; Alleles ; Blotting, Southern ; Child ; Complement System Proteins ; Diagnostic Tests, Routine ; DNA ; Female ; Fragile X Syndrome ; Gels ; Humans ; Male ; Methylation ; Mothers ; Pathology, Molecular ; Polymerase Chain Reaction ; Sepharose ; Trinucleotide Repeats

The autosomal dominant spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases, clinically and genetically heterogeneous, characterized by degeneration of spinocerebellar pathways with variable involvement of other neural systems. At present, 27 distinct genetic forms of SCAs are known: SCA1-8, SCA10-21, SCA23, SCA25-28, DRPLA (dentatorubral-pallidoluysian atrophy), and 16q-liked ADCA (autosomal dominant cerebellar ataxia). Epidemiological data about the prevalence of SCAs are restricted to a few studies of isolated geographical regions, and most do not reflect the real occurrence of the disease. In general a prevalence of about 0.3-2 cases per 100,000 people is assumed. As SCA are highly heterogeneous, the prevalence of specific subtypes varies between different ethnic and continental populations. Most recent data suggest that SCA3 is the commonest subtype worldwide; SCA1, SCA2, SCA6, SCA7, and SCA8 have a prevalence of over 2%, and the remaining SCAs are thought to be rare (prevalence <1%). In this review, we highlight and discuss the SCA7. The hallmark of SCA7 is the association of hereditary ataxia and visual loss caused by pigmentary macular degeneration. Visual failure is progressive, bilateral and symmetrical, and leads irreversibly to blindness. This association represents a distinct disease entity classified as autosomal dominant cerebellar ataxia (ADCA) type II by Harding. The disease affectsprimarily the cerebellum and the retina by the moderate to severe neuronal loss and gliosis, but also many other central nervous system structures as the disease progresses. SCA7 is caused by expansion of an unstable trinucleotide CAG repeat in the ATXN7 gene encoding a polyglutamine (polyQ) tract in the corresponding protein, ataxin-7. Normal ATXN7 alleles contain 4-35 CAG repeats, whereas pathological alleles contain from 36->450 CAG repeats. Immunoblott analysis demonstrated that ataxin-7 is widely expressed but that expression levels vary among tissues. Instability of expanded repeats is more pronounced in SCA7 than in other SCA subtypes and can cause substantial lowering of age at onset in successive generations termed 'anticipation' so that children may become diseased even before their parents develop symptoms. The strong anticipation in SCA7 and the rarity of contractions should have led to its extinction within a few generations. There is no specific drug therapy for this neurodegenerative disorder. Currently, therapy remains purely symptomatic. Cellular models and SCA7 transgenic mice have been generated which constitute valuable resources for studying the disease mechanism. Understanding the pathogenetic mechanisms of neurodegeneration in SCAs should lead to the identification of potential therapeutic targets and ultimately facilitate drug discovery. Here we summarize the clinical, pathological, and genetic aspects of SCA7, and review the current understanding of the pathogenesis of this disorder. Further, we also review the potential therapeutic strategies that are currently being explored in polyglutamine diseases.
Child ; Male ; Female ; Humans ; Mice ; Animals

GTPrS-dependent phospholipase D activity in human neutrophils was investigated using exogenous phospholipid as a substrate. Both cytosolic and membrane- associated phospholipase D activities were identified. The previously described 50 kDa cytosolic activating factor was resolved chromatographically from the cytosolic phospholipase D. Using exogenous phospholipid as substrate along with chromatographically resolved 50 kDa factor and recombinant ADP-ribosylation factor 1, plasma membrane was required for activity, indicating that the activity which was previously seen using endogenous phospholipid substrate was due to a phospholipase D located in the plasma membrane. In addition, ADP-ribosylation factor and the 50 kDa factor activated synergistically. Using neutrophil plasma membranes, a third regulator of neutrophil membrane phospholipase D was identified from bovine brain cytosol. This factor was resolved from ADP-ribosylation factor and Rho A by successive column chromatographies. The brain factor showed a synergistic effect with the 50 kDa neutrophil activator but an additive effect with recombinant ADP- ribosylation factor. Whether or not ADP-ribosylation factor or the brain factor were present, high activities were seen only when the 50 kDa factor was present, indicating that the 50 kDa cytosolic factor is a major activating factor for the neutrophil plasma membrane phospholipase D.
ADP-Ribosylation Factor 1 ; ADP-Ribosylation Factors* ; Brain* ; Cell Membrane ; Chromatography ; Cytosol* ; Fibrinogen ; Humans ; Membranes ; Neutrophils* ; Phospholipase D* ; Phospholipases*

Pseudoexfoliation syndrome is characterized by the presence of gray-white flakes on the pupillary borders and anterior lens capsule, increased trabecular meshwork pigmentation, and association with glaucoma. We describe 3 patients with this syndrome seen at Asan Meidcal Center Department of Ophthalmology in 1989, and we focus on their clinical features and management. We believe that patients with this syndrome are not as rare in Korea as has been thought, judging by scant report of cases in the past.
Aged ; Aged, 80 and over ; Anterior Eye Segment/*pathology ; Eye Diseases/*pathology ; Female ; Glaucoma, Angle-Closure/complications ; Glaucoma, Open-Angle/complications ; Humans ; Lens Diseases/pathology ; Male

Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders in humans. NF1 is caused by mutations in the NF1 gene which consists of 57 exons and encodes a GTPase activating protein (GAP), neurofibromin. To date, more than 640 different NF1 mutations have been identified and registered in the Human Gene Mutation Database (HGMD). In order to assess the NF1 mutational spectrum in Korean NF1 patients, we screened 23 unrelated Korean NF1 patients for mutations in the coding region and splice sites of the NF1 gene. We have identified 21 distinct NF1 mutations in 22 patients. The mutations included 10 single base substitutions (3 missense and 7 nonsense), 10 splice site mutations, and 1 single base deletion. Eight mutations have been previously identified and thirteen mutations were novel. The mutations are evenly distributed across exon 3 through intron 47 of the NF1 gene and no mutational hot spots were found. This analysis revealed a wide spectrum of NF1 mutations in Korean patients. A genotype- phenotype correlation analysis suggests that there is no clear relationship between specific NF1 mutations and clinical features of the disease.
Adolescent ; Adult ; Child ; Child, Preschool ; DNA/chemistry/genetics ; DNA Mutational Analysis ; Genotype ; Humans ; Infant ; Korea ; Middle Aged ; *Mutation ; Neurofibromatosis 1/*genetics/pathology ; Neurofibromin 1/*genetics ; Phenotype ; Research Support, Non-U.S. Gov't

No abstract available.

Penetrating keratoplasty was performed in six eyes of granular corneal dystrophy. Vision was improved from worse than 0.05 to better than 0.4. Mean follow-up period is 14 months (12-18 months). Corneal deposits were stained for H and E. Masson trichrome, Wilder's reticulin and Luxol fast blue but not for PAS, Congo red and Oil red a stain. Electron micorscopic examination showed that polymorphic, electron dense rod-shaped bodies were present in the Bowman's layer and between stromal lamellae and in the interceliular space of corneal epithelium. And, for the first time we found a area looked like a transformation from normal stroma to the granular deposit.
Congo Red ; Epithelium, Corneal ; Follow-Up Studies ; Keratoplasty, Penetrating ; Reticulin