OBJECTIVE: To detect potential variants in a family affected with Usher syndrome type I, and analyze its genotype-phenotype correlation. METHODS: Clinical data of the family was collected. Potential variants in the proband were detected by high-throughput sequencing. Suspected variants were verified by Sanger sequencing. RESULTS: The proband developed night blindness at 10 year old, in addition with bilateral cataract and retinal degeneration. Hearing loss occurred along with increase of age. High-throughput sequencing and Sanger sequencing revealed that she has carried compound heterozygous variants of the MYO7A gene, namely c.2694+2T>G and c.6028G>A. Her sister carried the same variants with similar clinical phenotypes. Her daughter was heterozygous for the c.6028G>A variant but was phenotypically normal. CONCLUSION The clinical features and genetic variants were delineated in this family with Usher syndrome type I. The results have enriched the phenotype and genotype data of the disease and provided a basis for genetic counseling.
Child ; Female ; Genetic Variation ; Genotype ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Mutation ; Myosin VIIa ; genetics ; Night Blindness ; etiology ; Pedigree ; Phenotype ; Usher Syndromes ; genetics ; pathology

BACKGROUND: Because of genetically and phenotypically heterogenous features, identification of causative genes for inherited retinal diseases (IRD) is essential for diagnosis and treatment in coming gene therapy era. To date, there are no large-scale data of the genes responsible for IRD in Korea. The aim of this study was to identify the distribution of genetic defects in IRD patients in Korea. METHODS: Medical records and DNA samples from 86 clinically diagnosed IRD patients were consecutively collected between July 2011 and May 2015. We applied the next-generation sequencing strategy (gene panel) for screening 204 known pathogenic genes associated with IRD. RESULTS: Molecular diagnoses were made in 38/86 (44.2%) IRD patients: 18/44 (40.9%) retinitis pigmentosa (RP), 8/22 (36.4%) cone dystrophy, 6/7 (85.7%) Stargardt disease, 1/1 (100%) Best disease, 1/1 (100%) Bardet-Biedl syndrome, 1/1 (100%) congenital stationary night blindness, 1/1 (100%) choroideremia, and 2/8 (25%) other macular dystrophies. ABCA4 was the most common causative gene associated with IRD and was responsible for causing Stargardt disease (n = 6), RP (n = 1), and cone dystrophy (n = 1). In particular, mutations in EYS were found in 4 of 14 autosomal recessive RP (29%). All cases of Stargardt disease had a mutation in the ABCA4 gene with an autosomal recessive trait. CONCLUSION: This study provided the distribution of genetic mutations responsible for causing IRD in the Korean patients. This data will serve as a reference for future genetic screening and treatment for Korean IRD patients.
Bardet-Biedl Syndrome ; Choroideremia ; Diagnosis ; DNA ; Genetic Testing ; Genetic Therapy ; Humans ; Korea ; Macular Degeneration ; Mass Screening ; Medical Records ; Night Blindness ; Retinal Diseases ; Retinaldehyde ; Retinitis Pigmentosa ; Vitelliform Macular Dystrophy

Choroideremia is a rare X-linked disorder causing progressive chorioretinal atrophy. Affected patients develop night blindness with progressive peripheral vision loss and eventual blindness. Herein, we report two Korean families with choroideremia. Multimodal imaging studies showed that the probands had progressive loss of visual field with characteristic chorioretinal atrophy, while electroretinography demonstrated nearly extinguished cone and rod responses compatible with choroideremia. Sanger sequencing of all coding exons and flanking intronic regions of the CHM gene revealed a novel small deletion at a splice site (c.184_189+3delTACCAGGTA) in one patient and a deletion of the entire exon 9 in the other. This is the first report on a molecular genetic diagnosis of choroideremia in Korean individuals. Molecular diagnosis of choroideremia should be widely adopted for proper diagnosis and the development of new treatment modalities including gene therapy.
Atrophy ; Blindness ; Choroideremia* ; Clinical Coding ; Diagnosis ; Electroretinography ; Exons ; Genetic Therapy ; Humans ; Introns ; Molecular Biology ; Multimodal Imaging ; Night Blindness ; Visual Fields

Vitamin A deficiency can occur as a result of malnutrition, malabsorption, or poor vitamin metabolism due to liver disease and night blindness might develop as the first symptom. Although there have been foreign reports about night blindness due to vitamin A deficiency which was derived from liver cirrhosis, primary biliary cirrhosis, intestinal bypass surgery or bariatric operation, it is hard to find reports about night blindness after percutaneous transhepatic biliary drainage for external bile drainage. We report a case of night blindness derived from fat-soluble vitamin A deficiency developed after long-term (18 months) external bile drainage for benign biliary stricture occurred after left hepatic lobectomy and hepaticojejunostomy due to the Klatskin tumor (IIIb). Her night blindness and low serum retinol level (0.02 mg/L) was dramatically improved after vitamin A supplementation. We recommend lipid-soluble vitamin supplementation on the case of long-term external bile drainage.
Bile* ; Constriction, Pathologic ; Drainage* ; Jejunoileal Bypass ; Klatskin's Tumor ; Liver Cirrhosis ; Liver Cirrhosis, Biliary ; Liver Diseases ; Malnutrition ; Metabolism ; Night Blindness* ; Vitamin A ; Vitamin A Deficiency ; Vitamins

PURPOSE: To report a case of long anterior lens zonule and pigment dispersion syndrome. CASE SUMMARY: A 67-year-old female visited our clinic with complaint of visual disturbance in the left eye. She had no history of nyctalopia. Visual acuity was 0.6 in the right eye and 0.4 in the left eye. Intraocular pressure was 12 mm Hg in the right eye and 16 mm Hg in the left eye. Nuclear sclerosis was observed in the left lens. There was no pseudoexfoliative material observed. In the left eye, long anterior zonules with brown pigmented lens striae were spotted irregularly in every direction of the anterior lens. On gonioscopy, the angle was open, and dense, uniform, trabecular meshwork pigmentations were observed at the interior 120 degrees. On fundus examination, cup-to-disc ratio was 0.4 in the right eye, 0.3 in the left eye, and multiple hard exudates were observed in both retinas. Axial length was 22.03 mm in the right eye and 21.84 in the left eye. Anterior chamber depth was 2.71 mm in the right eye and 2.47 mm in the left eye. Defects in the retinal nerve fiber or visual field examination were not observed and pigment dispersion syndrome was diagnosed. The patient showed no significant change at the 9-month follow-up. CONCLUSIONS: We diagnosed atypical pigment dispersion syndrome associated with long anterior zonules and pigmented lens striae. Late onset retinal degeneration should be ruled out with chromosomal analysis if patients show nyctalopia, retinal pigment epithelium atrophy, or family history.
Aged ; Anterior Chamber ; Atrophy ; Exudates and Transudates ; Female ; Follow-Up Studies ; Gonioscopy ; Humans ; Intraocular Pressure ; Nerve Fibers ; Night Blindness ; Pigmentation ; Retina ; Retinal Degeneration ; Retinal Pigment Epithelium ; Retinaldehyde ; Sclerosis ; Trabecular Meshwork ; Visual Acuity ; Visual Fields

To report retinal image of in a 6-year-old male castrated poodle dog with a 2-month history of nyctalopia using optical coherence tomography (OCT). Ocular reflexes were present in both eyes and slit lamp examination showed anterior subscapular cataract in the right eye. There were fundus abnormalities in both eyes similar to retinal degeneration. Scotopic electroretinograms (ERGs) revealed significantly subabnormal amplitudes and prolonged implicit time, whereas photopic ERGs were better maintained, although far from normal. OCT of affected dogs revealed generalized retinal thinning much more than a normal age-matched dog. Therefore, OCT scanning is considered to be a useful method for retinal evaluation in dogs with retinal degeneration.
Animals ; Cataract ; Dogs ; Electroretinography ; Eye ; Humans ; Male ; Night Blindness ; Reflex ; Retinal Degeneration ; Retinaldehyde ; Tomography, Optical Coherence

PURPOSE: Pantothenate kinase-associated neurodegeneration (PKAN), also known as neurodegeneration with brain iron accumulation is an extremely rare degenerative disease. The present study reports a case of retinal pigmentary changes in PKAN. CASE SUMMARY: A 6-year-old girl presented with night blindness and developmental delay. Neurologic examination revealed toe gait and dystonia. Ocular examination showed retinal pigmentary change in the entire retina without optic atrophy. Brain magnetic resonance imaging showed iron deposits in the basal ganglia, the so-called "eye of the tiger" sign. Genetic tests confirmed a mutation in the gene encoding pantothenate kinase 2. Electroretinography demonstrated severe loss of rod and cone responses, prominently reduced in the rod response. The patient was diagnosed with PKAN and pharmacologic treatment started. CONCLUSIONS: In the case of systemic neurological abnormalities with pigmentary retinal change, PKAN should be considered as a differential diagnosis.
Basal Ganglia ; Brain ; Diagnosis, Differential ; Dystonia ; Electroretinography ; Gait ; Humans ; Iron ; Magnetic Resonance Imaging ; Neurologic Examination ; Night Blindness ; Optic Atrophy ; Pantothenate Kinase-Associated Neurodegeneration ; Phosphotransferases ; Phosphotransferases (Alcohol Group Acceptor) ; Retina ; Retinal Degeneration ; Retinaldehyde ; Toes

PURPOSE: To report a case of a young male patient with retinitis pigmentosa (RP) accompanied by vitritis and neovascularization of the optic disk in both eyes who underwent unilateral vitrectomy for the treatment of vitreous hemorrhage in the right eye. CASE SUMMARY: An 8-year-old boy visited our clinic with a complaint of night blindness. Both eyes showed inflammatory cells in the anterior vitreous and neovascularization of the optic disk confirmed by fluorescein angiography. Extensive vitreous hemorrhage developed in his right eye and he underwent unilateral vitrectomy. His final visual acuity was 0.6 in both eyes. CONCLUSIONS: Vitreous hemorrhage may be related to chronic inflammation in the vitreous and is a very rare RP complication. Vitrectomy can be an effective treatment option for RP complicated by vitreous hemorrhage.
Eye ; Fluorescein Angiography ; Humans ; Inflammation ; Male ; Night Blindness ; Optic Disk ; Retinitis ; Retinitis Pigmentosa ; Visual Acuity ; Vitrectomy ; Vitreous Hemorrhage

OBJECTIVETo detect genetic mutations associated with autosomal dominant congenital stationary night blindness (ADCSNB) in a family from Henan province.

METHODSGenomic DNA was extracted from peripheral blood samples of 14 family members. Based on 3 genes reported previously, PCR primers were designed and corresponding exons containing the mutation sites were amplified with PCR. PCR products were purified and directly sequenced.

RESULTSA c.281C>T heterozygous missense mutation was detected in RHO gene in all of the patients. This mutation can cause a change of the protein structure (p.Thr94Ile). The same mutation was not detected in normal individuals from the family and 50 normal controls.

CONCLUSIONA c.281C>T mutation in RHO gene is responsible for the onset of ADCSNB in this Chinese family and results in symptoms of night blindness.

Adult ; Amino Acid Sequence ; China ; DNA Mutational Analysis ; methods ; Eye Diseases, Hereditary ; Female ; Genetic Diseases, X-Linked ; Genetic Predisposition to Disease ; Humans ; Male ; Molecular Sequence Data ; Mutation, Missense ; Myopia ; genetics ; Night Blindness ; genetics ; Rhodopsin ; genetics ; Sequence Alignment ; methods

PURPOSE: To report specific spectral domain OCT findings of Oguchi disease diagnosed with fundoscopic examination and electrophysiological study. CASE SUMMARY: A 14-year-old patient visited our clinic with a complaint of night blindness for ten years. Fundoscopic examination showed a golden-yellow fundus reflex. After three hours of dark adaptation, the fundus color returned to normal (Mizuo-Nakamura phenomenon). In full-field ERG, rod b-wave was not detectable. The a-wave amplitude in maximal combined response increased after three hours of dark adaptation, although the b-wave amplitude was similar to the amplitude before dark adaptation, demonstrating a negative waveform. In the spectral domain OCT images of the perifoveal area, no gap between the retinal pigment epithelium and the inner segment/outer segment (IS/OS) junction was detected before prolonged dark adaptation, and a highly reflective band was shown. However, the gap appeared after three hours of dark adaptation, and two highly reflective bands were detected in the OCT images. CONCLUSIONS: The characteristic OCT finding in addition to the specific fundoscopic finding and full-field ERG results may be useful to diagnose Oguchi disease.
Adolescent ; Dark Adaptation ; Electroretinography ; Humans ; Night Blindness ; Reflex ; Retinal Pigment Epithelium ; Tomography, Optical Coherence