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

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*

Objective To predict the pigmentation phenotypes of Chinese populations from different language families, analyze the differences and provide reference data for forensic anthropology and genetics. Methods The HIrisPlex-S multiplex amplification system with 41 loci related to pigmentation phenotypes was constructed in the laboratory, and 2 666 DNA samples of adult males of 17 populations from six language families, including Indo-European, Sino-Tibetan, Altaic, Hmong-Mien, Tai-Kadai and Austro-Asiatic language families distributed in different regions of China were genotyped. The pigmentation phenotype category of each individual was predicted using the online prediction system （https://HIrisPlex.erasmusmc.nl/）, and then the output data were statistically analyzed. Results About 1.92% of the individuals of Asian-European admixed populations from Indo-European and Altaic language families had blue eyes and 34.29% had brown or gold hair. The phenotypes of the color of eyes and hair of other populations had no significant difference, all individuals had brown eyes and black hair. There were differences in skin color of populations of different language families and geographical areas. The Indo-European language family had the lightest skin color, and the Austro-Asiatic language family had the darkest skin color; the southwestern minority populations had a darker skin color than populations in the plain areas. Conclusion The prediction results of pigmentation phenotype of Chinese populations are consistent with the perception of the appearance of each population, proving the reliability of the system. The color of eyes and hair are mainly related to ancestral components, while the skin color shows the differences between language families, and is closely related to geographical distribution of populations.
Adult ; Asian People/genetics* ; China ; Eye Color/genetics* ; Forensic Anthropology ; Forensic Genetics/methods* ; Humans ; Language ; Male ; Phenotype ; Polymorphism, Single Nucleotide ; Reproducibility of Results ; Skin Pigmentation/genetics*

PURPOSE: To report a case of bilateral optic disc edema associated with hypocalcemia. CASE SUMMARY: A 48-year-old woman visited our ophthalmology department with decreased vision and disturbance of the visual field in the right eye, which began 2 days prior to presentation. The patient history indicated she had undergone total thyroidectomy 3 months prior and was given an oral calcium preparation. She had no eye pain, headache, tinnitus or diplopia. Her best corrected visual acuity of both eyes was 1.0, and color vision was normal in both eyes although a mild relative afferent pupillary defect was present in the right eye. Severe bilateral optic disc edema was present in the right eye. A Humphrey visual field test revealed an enlarged blind spot and peripheral nasal step scotoma in the right eye. The Cerebrospinal fluid (CSF) opening pressure was within the normal range and there were no abnormal findings regarding CSF. Additionally, there were no remarkable findings on brain magnetic resonance imaging nor neurologic tests. Her serum calcium was 5.9 mg/dL (normal range: total calcium 8.7-10.6 mg/dL), and an intravenous calcium supplement was started. Visual disturbance and optic disc edema improved 2 days after replacement and the optic disc edema completely dissolved 2 months later. CONCLUSIONS: Hypocalcemia may cause bilateral optic disc edema and can be recovered through adequate calcium supplementation, and it is necessary to prevent and promptly detect this rare complication.
Brain ; Calcium ; Cerebrospinal Fluid ; Color Vision ; Diplopia ; Edema* ; Eye Pain ; Female ; Headache ; Humans ; Hypocalcemia* ; Magnetic Resonance Imaging ; Middle Aged ; Ophthalmology ; Optic Disk ; Optic Nerve Diseases ; Papilledema ; Pupil Disorders ; Reference Values ; Scotoma ; Thyroidectomy ; Tinnitus ; Visual Acuity ; Visual Field Tests ; Visual Fields

PURPOSE: To analyze the effect of stereopsis and contrast sensitivity on the quality of life and to evaluate the relationship between integrated binocular visual field (IVF) and binocular visual function in bilateral normal tension glaucoma (NTG) patients. METHODS: Stereopsis and contrast sensitivity tests were performed and compared among 44 NTG patients and 32 normal subjects. The IVF was integrated using the best location method. The correlation between visual function and subscales of the National Eye Institute Visual Function Questionnaire 25 (NEI VFQ-25) was evaluated using univariate linear regression. RESULTS: Stereopsis and contrast sensitivity for the bilateral NTG patients were decreased compared to the normal controls. Stereopsis and contrast sensitivity exhibited a significant correlation with social functions related to vision and color vision among subscales of NEI VFQ-25. IVF mean deviation (MD) and better eye MD showed a significant correlation with stereopsis and contrast sensitivity, while worse eye MD showed no association. CONCLUSIONS: Deterioration of stereopsis and contrast sensitivity in NTG patients affects their quality of life related to social functions and color vision. Both IVF and better eye MDs are correlated with stereopsis and contrast sensitivity in NTG patients.
Color Vision ; Contrast Sensitivity ; Depth Perception ; Humans ; Linear Models ; Low Tension Glaucoma* ; Methods ; National Eye Institute (U.S.) ; Quality of Life* ; Telescopes* ; Visual Fields

PURPOSE: We report a case of meningioma diagnosed as ischemic optic neuropathy. CASE SUMMARY: A 45-year-old women presented with decreased visual acuity in her left eye without eye movement pain. Her best corrected visual acuity (BCVA) in that eye was 0.3. She showed a relative afferent pupillary defect, abnormal color vision test, and inferior visual field defect in her left eye. The optic disc showed slight blurring superiorly and pallor temporally. Fluorescein angiography showed choroidal filling defect, and ischemic optic neuropathy was suspected. The carotid artery sonography showed normal results. The BCVA of the left eye was 0.5 after 7 months. The visual field test and color vision test were improved after 7 months. The optic disc was pale. The magnetic resonance imaging was performed because of persistent headache, and that showed a suprasellar mass that was removed by surgical resection and diagnosed as meningioma on biopsy. CONCLUSIONS: The possibility of compressive optic neuropathy should be considered in presumed ischemic optic neuropathy if the patient complains of persistent headache.
Biopsy ; Carotid Arteries ; Choroid ; Color Vision ; Eye Movements ; Female ; Fluorescein Angiography ; Headache ; Humans ; Magnetic Resonance Imaging ; Meningioma* ; Middle Aged ; Optic Nerve Diseases ; Optic Neuropathy, Ischemic* ; Pallor ; Pupil Disorders ; Visual Acuity ; Visual Field Tests ; Visual Fields

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*

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 an atypical case of ocular toxoplasmosis presenting as isolated unilateral papillitis. CASE SUMMARY: A 53-year-old female presented with visual difficulty in her right eye that had begun 1 week previously. Best corrected visual acuity was 0.8 in the right eye and 1.0 in the left eye. On fundoscopic examination, optic disc swelling and focal edema with hard exudates in the nasal parapapillary retina were found in her right eye. Fluorescein angiography revealed marked leakage of dye from the swollen optic disc. There was no evidence of vasculitis and chorioretinitis. Pupillary light reflex and color vision were normal. Visual field (VF) showed generalized reduction in the right eye, and was normal in the left eye. Optical coherence tomography (OCT) revealed right optic disc swelling. Serology was positive for toxoplasma IgM and IgG. The patient was treated with oral steroids and antitoxoplasma antibiotics. Two months later, visual acuity was 1.0 in the right eye. There was no disc swelling on fundoscopy or OCT and VF was normal. CONCLUSIONS: Ocular toxoplasmosis can present atypically as isolated papillitis without chorioretinitis and mimic idiopathic optic neuritis. A thorough serologic examination for toxoplasmosis along with proper treatment should be performed.
Anti-Bacterial Agents ; Chorioretinitis ; Color Vision ; Edema ; Exudates and Transudates ; Eye ; Female ; Fluorescein Angiography ; Humans ; Hydrazines ; Immunoglobulin G ; Immunoglobulin M ; Light ; Middle Aged ; Optic Neuritis ; Papilledema ; Reflex ; Retina ; Retinitis ; Steroids ; Tomography, Optical Coherence ; Toxoplasma ; Toxoplasmosis ; Toxoplasmosis, Ocular ; Vasculitis ; Visual Acuity ; Visual Fields

PURPOSE: To evaluate the impact of intravitreal bevacizumab injection on visual function and vision-related quality of life (VR-QOL) in patients with branch retinal vein occlusion (BRVO) using the Korean version of the National Eye Institute Visual Function Questionnaire 25 (K-NEI-VFQ-25). METHODS: This study included 32 normal control subjects and 32 patients with BRVO. The Korean version of NEI-VFQ-25 was answered by the patients with BRVO before and 3 months after intravitreal bevacizumab injection, as well as by normal control subjects. Clinical data were collected, including central macular thickness (CMT), total macular volume (TMV) (using time-domain optical coherence tomography [OCT]), and best corrected visual acuity (BCVA). RESULTS: Visual acuity, CMT, and TMV significantly improved 3 months after intravitreal bevacizumab injections. No bevacizumab-related systemic or ocular adverse effects following intravitreal drug injections were observed. Significant improvement in the VFQ-25 composite score was observed in patients with BRVO. Subscale scores, including general vision, near activities, distance activities, social functioning, mental health, role difficulties, dependency, and peripheral vision, improved after injection. However, subscale scores regarding general health, ocular pain, driving, and color vision did not improve significantly. CONCLUSIONS: Intravitreal bevacizumab injection appears to be an effective treatment for visual function, as well as VR-QOL in macular edema secondary to BRVO. However, improvement of driving function and color vision appears to require a longer recovery time than visual function.
Antibodies, Monoclonal, Humanized ; Color Vision ; Dependency (Psychology) ; Humans ; Macular Edema ; Mental Health ; National Eye Institute (U.S.) ; Quality of Life ; Surveys and Questionnaires ; Retinal Vein ; Retinal Vein Occlusion ; Retinaldehyde ; Tomography, Optical Coherence ; Vision, Ocular ; Visual Acuity ; Bevacizumab