Choroideremia is characterized by progressive atrophy of choroid and pigment epithelium of retina leading to night blindness and gross loss of field. and is inherited as X chromosome linked intermediate. Authors experienced 2 cases among a family of choroideremia. The clinical finding and brief reviews of literatures are reported as followings.
Atrophy ; Choroid ; Choroideremia* ; Epithelium ; Humans ; Night Blindness ; Retina ; X Chromosome

OBJECTIVE: To analyze the clinical manifestations and causative gene variants of the choroideremia patients, and to help the patients bedifferential diagnosed by whole exome sequencing and provide theoretical basis for their genetic counseling. METHODS: Clinical data of 3 families were collected and genomic DNA was extracted respectively from peripheral blood of patients and related subjects. Exome targeted sequencing was used to screen suspicious gene mutations. Sanger sequencing and quantitative PCR were used to verify the candidate mutations and investigate the mutation carrying status of other members of the family. The candidate mutations were searched through HGMD and PubMed databases for the pathogenicity reports, and the pathogenicity of candidate mutations was judged according to a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. RESULTS: The proband of family 1 is c.1584_1587del (p.Val529Hisfs*6) variant hemizygote, whose daughter carries c.1584_1587del (p.Val529Hisfs*6) heterozygous variation. The proband of family 2 is a hemizygote with deletion of exons 10 to 15 (E10-15del), and her mother and sister carry the E10-15del heterozygous variation. In family 3, the proband is c.544delT (p.Cys182Valfs*14) variant hemizygote, and his mother is c.544delT (p.Cys182Valfs*14) heterozygote, but the father do not detect this variant. All the 3 families were detected pathogenic gene variations of CHM, two of which were known pathogenic variation and one of which was novel CHM gene c.544delT (p.C182Vfs*14) in this study. The c.544delT frameshift mutation of CHM gene can lead to the premature termination of the product protein translation and nonfunctioning protein. It is a pathogenic mutation according to ACMG guidelines. CONCLUSION The findings of this study expand the gene variation spectrum of choroideremia.
Choroideremia/genetics* ; Female ; Heterozygote ; Humans ; Mutation ; Pedigree ; Whole Exome Sequencing

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

Choroideremia is a rare hereditary disease with characteristic fundus that causes night blindness and peripheral visual field loss. The authors encounter choroideremia accompanied by recurrent uveitis. This paper is designed to give a description of the condition, along with an investigation of the literature. Ophthalmological tests and treatments were performed. Characteristic fundus, night blindness, peripheral visual field loss, electroretinography and other manifestations led us to a diagnosis of choroideremia. The anterior uveitis was managed with medication.
Adult ; Choroideremia/*complications/diagnosis ; Electroretinography ; Fluorescein Angiography ; Fundus Oculi ; Human ; Male ; Night Blindness/etiology ; Recurrence ; Uveitis, Anterior/*complications ; Vision Disorders/etiology ; Visual Fields

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

PURPOSE: To report the first domestic case of choroidal neovascularization in a choroideremia patient treated with intravitreal bevacizumab injection. CASE SUMMARY: A 29-year-old male presented with a sudden decline in vision in the left eye. Fundus examination revealed areas of choriocapillaries and retinal pigment epithelium atrophy with macular hemorrhage. Fluorescein angiogram revealed vascular hyperfluorescence in the juxtafoveal area. Neurosensory detachment around the macula and increased central macular thickness was also observed using optical coherence tomography. Upon the diagnosis of choroideremia with choroidal neovascularization, the patient was treated with 1.25 mg intravitreal bevacizumab. Visual acuity improved after four injections of intravitreal Bevacizumab with improvement in both detachment and fluorescein leakage. CONCLUSIONS: In patients with choroideremia presenting sudden decline in vision, ophthalmologists should detect for possible choroidal neovascularization. The results from the present study show that judicious use of intravitreal Bevacizumab may be effective in such cases. Further studies with a large sample size and sufficiently long follow-up periods are required.
Adult ; Antibodies, Monoclonal, Humanized ; Atrophy ; Choroid ; Choroidal Neovascularization ; Choroideremia ; Eye ; Fluorescein ; Follow-Up Studies ; Hemorrhage ; Humans ; Male ; Retinal Pigment Epithelium ; Sample Size ; Tomography, Optical Coherence ; Vision, Ocular ; Visual Acuity ; Bevacizumab