OBJECTIVES: This study was conducted in order to evaluate the effects of inhalants on color vision impairment. METHODS: The inhalation group consisted of 81 neurotoxic chemical substance abusers at Bugok National Hospital and Institute of Forensic Psychiatry, Ministry of Justice. The control group consisted of 41 employees of Bugok National Hospital. The Lanthony D-15 desaturated hue test was administered to both groups. For the qualitative analysis, we classified the results by the morphological characteristics of color vision impairment. For the quantitative analysis, we calculated the total color distance score (TCDS) and the color confusion index (CCI) and determined that the individual was abnormal if the TCDS was over 65.0 or the CCI was over 1.25. RESULTS: The TCDS of the inhalation group was 75.58+/-21.07 and the CCI was 1.34+/-0.37 in the right eye, and 75.47+/-23.63 and 1.34+/-0.42, respectively in the left eye. These results are higher than those found for the control group. In regards to the TCDS, 50 (61.8%) of the abusers in the inhalation group had color vision impairment in the right eye and 48 (59.2%) had impairment in the left eye. 11 (26.8%) of the employees in the control group had color vision impairment in the right eye and 13 (31.7%) had impairment in the left eye. In regards to the CCI, 38 (46.9%) of the abusers in the inhalation group had color vision impairment in the right eye and 35 (43.2%) had impairment in the left eye. 4 (9.8%) of the employees in the control group had color vision impairment in the right eye and 7 (17.0%) had impairment in the left eye. The results of multiple logistic regression analysis for acquired color vision impairment showed that the inhalation period (OR=1.20, 95% CI: 1.03~1.40) was the significant variable. CONCLUSIONS: These findings indicate that the inhalation of neurotoxic substances may impair the color vision, and the period inhaled with neurotoxic substances is significant variable affecting on the acquired color vision impairment.
Color Vision ; Eye ; Forensic Psychiatry ; Inhalation ; Logistic Models ; Social Justice

The prediction of externally visible characteristics from DNA has been studied for forensic genetics over the last few years. Externally visible characteristics include hair, skin, and eye color, height, and facial morphology, which have high heritability. Recent studies using genome-wide association analysis have identified genes and variations that correlate with human visible phenotypes and developed phenotype prediction programs. However, most prediction models were constructed and validated based on genotype and phenotype information on Europeans. Therefore, we need to validate prediction models in diverse ethnic populations. In this study, we selected potentially useful variations for forensic science that are associated with hair and eye color, iris pattern, and facial morphology, based on previous studies, and analyzed their frequencies in 1,920 Koreans. Among 20 single nucleotide polymorphisms (SNPs), 10 SNPs were polymorphic, 6 SNPs were very rare (minor allele frequency < 0.005), and 4 SNPs were monomorphic in the Korean population. Even though the usability of these SNPs should be verified by an association study in Koreans, this study provides 10 potential SNP markers for forensic science for externally visible characteristics in the Korean population.
DNA ; Eye Color ; Forensic Genetics ; Forensic Sciences ; Gene Frequency ; Genotype ; Hair ; Hair Color ; Humans ; Iris ; Phenotype ; Polymorphism, Single Nucleotide ; Skin

PURPOSE: To report a case of a female patient treated with stereotactic radiosurgery for compressive optic neuropathy by recurred maxillary cancer. CASE SUMMARY: A 51-year-old woman with a history of maxillary cancer presented with decreased visual acuity and visual field and color vision defects in the right eye. The CT scan revealed a wide spread mass along the ethmoid sinus, orbit, optic canal, and skull base. Under the impression of compressive optic neuropathy, stereotactic radiosurgery was performed. A cumulative dose of 39 Gy in 3 daily fractions of 13 Gy was administered to the mass. After 10 days, visual acuity, color vision, and visual field improved and were maintained after a 2 month follow-up. CONCLUSIONS: Stereotactic radiosurgery could be another treatment option for patients with compressive optic neuropathy caused by a malignant tumor.
Color Vision ; Color Vision Defects ; Ethmoid Sinus ; Eye ; Female ; Humans ; Middle Aged ; Optic Nerve Diseases ; Orbit ; Radiosurgery ; Skull Base ; Visual Acuity ; Visual Fields

Molecular identification of human externally visible characteristic （EVC）, which is also called forensic DNA phenotyping （FDP）, can serve as a "molecular witness" when the routine investigations can not determine the identity of a criminal and the DNA database find no match after comparison. FDP could assist in investigation of cases by inferring the externally visible phenotypic characteristics from DNA obtained from the biological materials left at crime scenes, or unknown corpses. In the last few years, studies on the selection of EVC related molecular markers have been reported frequently and some of the EVCs could already be inferred with a certain accuracy, such as hair color and iris color. Further fundamental research on molecular genetics of human external phenotypic characteristics, as well as the continuous innovation on molecular biological technology would promote the rapid development of DNA molecular identification of human phenotypic characteristics.
DNA/genetics* ; Databases, Nucleic Acid ; Eye Color/genetics* ; Forensic Anthropology/trends* ; Forensic Genetics/trends* ; Hair Color/genetics* ; Humans ; Phenotype ; Physical Appearance, Body/genetics* ; Skin Pigmentation/genetics*

PURPOSE: To report a case of compressive optic neuropathy due to a giant unruptured aneurysm of a distal internal carotid artery. CASE SUMMARY: A 68-year-old female presented with a one-week history of visual disturbance in her left eye. The patient had no underlying disease except hypertension. Best corrected visual acuity was 20/20 in the right eye and 8/20 in the left eye. The color perception test showed abnormal findings in the left eye. Slit lamp examination showed no abnormal finding except incipient cataract in both eyes. Additionally, fundus examination showed no abnormal finding. Brain MRI and MRA revealed a 2.4 x 2.2 x 3.0-cm-sized unruptured giant aneurysm on the left internal carotid artery. CONCLUSIONS: A giant aneurysm should be considered as a cause for acute or subacute optic neuropathy in a patient with hypertension.
Aged ; Aneurysm ; Brain ; Carotid Artery, Internal ; Cataract ; Color Perception Tests ; Eye ; Female ; Humans ; Hypertension ; Optic Nerve Diseases ; Visual Acuity

PURPOSE: To compare contrast sensitivity and color vision after implantation of a clear intraocular lens (IOL) and a yellow-tinted IOL in diabetic retinopathy patients. METHODS: In the 50 eyes of 25 diabetic patients with non-proliferative diabetic retinopathy, clear IOLs were implanted in 25 eyes, and yellow-tinted IOLs were implanted in 25 fellow eyes. Three months after the surgery, contrast sensitivity function was measured with a vision contrast test system, and color discrimination was tested using the Farnsworth Munsell 100-hue test. RESULTS: Eyes implanted with yellow-tinted IOLs had significant differences in contrast sensitivity values compared to those of fellow eyes implanted with clear IOLs in both the moderate diabetic retinopathy group (6.0 cycles per degree) and the severe diabetic retinopathy group (throughout all spatial frequencies except 12.0 cycles per degree). The yellow-tinted IOL did not modify chromatic discrimination compared with that of the clear IOL. In the blue-yellow axis error score, however, there were significant differences between the clear IOL and the yellow-tinted IOL. CONCLUSIONS: With progressing diabetic retinopathy, the yellow-tinted IOL provided better contrast sensitivity than the clear IOL. The yellow-tinted IOL improved color vision in the blue-yellow chromatic axis without causing chromatic discrimination defects.
Axis, Cervical Vertebra ; Color Vision ; Contrast Sensitivity ; Diabetic Retinopathy ; Discrimination (Psychology) ; Eye ; Humans ; Lenses, Intraocular ; Vision, Ocular

OBJECTIVE: To explore the genetic basis for a patient with syndromic hearing loss. METHODS: Genomic DNA of the patient was extracted, for which 127 deafness-related genes were enriched with a chip. Following next generation sequencing, pathogenic loci in exonic regions were analyzed through comparison against the databases. Genotype of her fetus for the suspected site was determined by testing the amniotic fluid sample. qPCR method was applied to verify the deletion of a large fragment. RESULTS: The proband was diagnosed with Waardenburg syndrome type 2, and had harbored a novel heterozygous deletion of the exons 3 and 4 of the SOX10 gene. Her fetus was found to carry the same deletion and presented with blue eyes and deafness after birth. CONCLUSION Waardenburg syndrome type 2 due to SOX10 gene deletion may feature autosomal dominant inheritance with incomplete penetrance. The deletion of exons 3 and 4 of the SOX10 gene probably underlies the disease in this family.
Eye Color ; Female ; Hearing Loss ; Humans ; Mutation ; Pedigree ; Pregnancy ; Prenatal Diagnosis ; SOXE Transcription Factors ; genetics ; Waardenburg Syndrome

Single nucleotide polymorphism (SNP) refers to the single base sequence variation in specific location of the human genome. Phenotype informative SNP has gradually become one of the research hot spots in forensic science. In this paper, the forensic research situation and application prospect of phenotype informative SNP in the characteristics of hair, eye and skin color, height, and facial feature are reviewed.
Eye Color/genetics* ; Forensic Genetics/trends* ; Forensic Sciences ; Genome, Human ; Hair ; Humans ; Phenotype ; Polymorphism, Single Nucleotide/genetics*

PURPOSE: In order to evaluate the clinical features and visual prognosis of Leber's hereditary optic neuropathy (LHON) associated with T14484C mitochondrial DNA (mtDNA) mutation in Korean patients. METHODS: To evaluate the clinical feature of Korean LHON patients with T14484C mtDNA mutation, a retrospective chart review was performed on 14 patients who visited our clinic with the chief complaint of decreased visual acuity. RESULTS: All of the 14 patients experienced a significant decrease in visual acuity during the follow-up period. Eight of these patients (57%) showed an improvement in visual acuity of 20/50 or better in one or both eyes, and the remaining six patients (43%) showed visual acuities of 20/200 or worse in both eyes at the final follow-up. When the symptoms aggravated, ten patients (71%) showed central scotoma or cecocentral scotoma. Eleven of 12 patients (92%) who had undergone the Ishihara color vision test showed dyschromatopsia in the aggravated stage. Four patients had dyschromatopsia and three patients had central scotoma in both eyes even after visual recovery. There were no statistically significant differences in the age of onset or the nadir of visual acuity between the good visual recovery group and the non-recovery group (p > 0.05). CONCLUSIONS: Korean LHON patients with the T14484C mutation showed relatively good visual prognosis similar to those of the Caucasian or Japanese patients but with remaining dyschromatopsia or central scotoma after visual recovery.
Age of Onset ; Asian Continental Ancestry Group ; Color Vision ; DNA, Mitochondrial ; Eye ; Follow-Up Studies ; Humans ; Optic Atrophy, Hereditary, Leber ; Prognosis ; Retrospective Studies ; Scotoma ; Visual Acuity

PURPOSE: To report an extremely rare case of optic nerve involvement in Miller-Fisher syndrome. CASE SUMMARY: A 74-year-old woman presented to our clinic with decreased visual acuity in both eyes. Such symptoms started 1 month prior to her visit, after sudden onset of left-side motor power weakness and dysphasia. Following the initial symptoms, our patient consecutively experienced worsening dysphagia, ptosis, and lateral gaze limitation. We confirmed the diagnosis as Miller Fischer syndrome with a positive anti-GQ1b antibody serology. She received immunoglobulin treatment for 5 days in other departement. She visited our clinic due to continuing diplopia, decrease of visual acuity and gait disturbance. On initial examination, the corrected visual acuity was 0.5 in both eyes. Ptosis of both eyelids, esodeviation, limitation in ocular movement was noted. The fundoscopic examinations revealed relatively pale optic disc. There was decrease in color vision in both eyes. The visual evoked potential test showed low amplitude and delayed latency in P100 wave in both eyes. Two months after her initial visit to our department her symptoms started to improve, and after 4 months all the initial problems resolved completely and her corrected visual acuity checked out to be 0.8 in both eyes and VEP abnormality was recovered. CONCLUSIONS: It is extremely uncommon for Miller Fisher syndrome to involve the optic nerve. We present such a case of a 74-year-old woman whose symptoms improved 4 months after its first attack with treatment.
Aged ; Aphasia ; Color Vision ; Deglutition Disorders ; Diplopia ; Esotropia ; Evoked Potentials, Visual ; Eye ; Eyelids ; Female ; Gait ; Humans ; Immunoglobulins ; Miller Fisher Syndrome ; Optic Nerve ; Visual Acuity