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 a case of choroidal neovascularization in a Best disease patient treated with intravitreal bevacizumab injection and followed up with optical coherence tomography angiography (OCTA). CASE SUMMARY: A 20-year-old female visited our clinic with decreased visual acuity of the left eye for 6 months. On optical coherence tomography (OCT), subretinal fluid and hyperreflective subretinal clumps were observed in the macula of the right eye. Subretinal hemorrhage and subretinal fluid were observed in the left eye. Choroidal neovascularization in the left eye was observed using OCTA, fluorescein angiography, and indocyanine green angiography. A full-field electroretinogram was normal in both eyes, but an electrooculogram revealed that the Arden ratio was 1.564 in the right eye and 1.081 in the left eye. Intravitreal bevacizumab injection was performed in the left eye. At 6 months after the intravitreal injection, the best-corrected visual acuity of the left eye had recovered to 20/20. OCT revealed that subretinal fluid reduced and choroidal neovascularization was stable. After 12 months, visual acuity of the left eye was maintained at 20/20, but OCTA revealed that choroidal neovascularization had increased. CONCLUSIONS: Choroidal neovascularization associated with Best disease can improve by intravitreal bevacizumab injection, and the changes in choroidal neovascularization can be followed using OCTA.
Angiography ; Bevacizumab ; Choroid ; Choroidal Neovascularization ; Electrooculography ; Female ; Fluorescein Angiography ; Hemorrhage ; Humans ; Indocyanine Green ; Intravitreal Injections ; Subretinal Fluid ; Tomography, Optical Coherence ; Visual Acuity ; Vitelliform Macular Dystrophy ; Young Adult

PURPOSE: To report a patient diagnosed with adult-onset vitelliform dystrophy (AOVD) who received an intravitreal injection of bevacizumab in both eyes. CASE SUMMARY: A 47-year-old female presented with blurred vision and metamorphopsia in both eyes. On color fundus photograph, small, round, yellowish dots on the foveola and subreitnal fluid were observed. Optical coherence tomography (OCT) showed thick hyperreflective structures in the retinal pigment epithelium (RPE) layer with serous retinal detachment and subretinal fluid. Despite an intravitreal injection of bevacizumab on both eyes, anatomical improvement was not observed on fundus photography and OCT.
Female ; Humans ; Intravitreal Injections* ; Middle Aged ; Photography ; Retinal Detachment ; Retinal Pigment Epithelium ; Subretinal Fluid ; Tomography, Optical Coherence ; Vision Disorders ; Vitelliform Macular Dystrophy* ; Bevacizumab

Objective: To describe a case of adult-onset foveomacular vitelliform dystrophy (AOFVD). Method: This is a case report. Results: A 22-year-old female presented with painless blurring of vision and metamorphopsia 3 days prior to consultation. There were 2 similar episodes in the past that spontaneously resolved after 2 to 4 weeks. Visual acuity (VA) was 20/50 in the right eye (OD) and 20/40 in the left (OS), both best corrected to 20/25. Dilated-fundus examination revealed a discrete area of mixed hypoand hyperpigmentation 1 disc diameter over the fovea in OD and a solitary round hypopigmented lesion with a hyperpigmented border 3 to 4 disc diameters on the fovea in OS. Fluorescein angiography (FA) revealed an area of hyperfluorescence surrounded by a rim of hypoflourescence in OD and an area of blocked fluorescence with subtle hyperfluorescence superior to the lesion in OS, both of which did not increase in size and intensity toward the late phases. Optical coherence tomography (OCT) revealed neurosensory detachment in both eyes. Electrooculogram (EOG) was normal with Arden ratio of 0.91. VA returned to 20/25 in both eyes, and repeat fundus photography showed no change in the characteristics of the lesions. Conclusion Differential diagnosis of a hypopigmented macular lesion in the young with self-limited blurring of vision should include AOFVD. FA, OCT, and EOG can help distinguish AOFVD from Best’s disease or other similar macular conditions.
Vitelliform Macular Dystrophy ; Bestrophins ; Peripherins

PURPOSE: To report a case of Best's disease with old-age-onset with unusual clinical features. CASE SUMMARY: A 68-year-old woman with a six-month history of using oral steroids complained of decreased vision in both eyes. Fundus examination revealed a circular area of macular elevation measuring approximately 1.5 disc diameter size in both eyes. Optical coherence tomography (OCT) showed serous retinal detachment, but pigment epithelial detachment was seen only on fluorescein angiography and indocyanine green angiography. The patient received a diagnosis of chronic central chorioretinopathy with choroidal neovascularization. Photodynamic therapy (PDT) and intravitreal bevacizumab (IVB) injections were prescribed as treatment, but were ineffective. For a definitive diagnosis, we performed an electro-oculogram (EOG) and the result was abnormal with an Arden ratio below 1.5 in both eyes. A final diagnosis of Best's disease was established. Spectral domain OCT findings at the last visit showed a clearly visible RPE split and a low reflective space between the split RPE layers, as well as a high reflectivity corresponding to the subretinal material. CONCLUSIONS: We report a case of Best's disease with old-age onset with unusual clinical features and abnormal EOG findings. Spectral domain OCT was helpful in evaluating the disease. Treatment with PDT and IVB was not effective.
Aged ; Angiography ; Antibodies, Monoclonal, Humanized ; Choroidal Neovascularization ; Electrooculography ; Eye ; Female ; Fluorescein Angiography ; Humans ; Indocyanine Green ; Photochemotherapy ; Retinal Detachment ; Steroids ; Tomography, Optical Coherence ; Triazenes ; Vision, Ocular ; Vitelliform Macular Dystrophy ; Bevacizumab

PURPOSE: To report the optical coherence tomography (OCT) findings of three cases in various stages of juvenile-onset vitelliform macular dystrophy (Best disease). CASE SUMMARY: Medical records of six eyes from three patients diagnosed with Best disease were reviewed retrospectively. We evaluated the clinical features of the fundus, the electro-oculogram, and the optical coherence tomography (OCT) results. In the fundi of the three patients with Best disease, the characteristic stages of vitelliform, pseudohypopyon, and scrambled egg appearance were identified. Optical coherence tomography findings in the eyes of the patients with Best disease showed two types of outer retina-choroid complex (ORCC) changes, including splitting with intervening hyporeflective areas and elevation over hyporeflective area. CONCLUSIONS: The OCT findings showed variable patterns according to the progression of Best disease. In the pseudohypopyon stage, both neurosensory detachment and retinal pigment epithelial detachment appearance were identified. The exact location of the resulting lesions seems to depend on the relative impediment of fluid movement caused by the mutation of bestrophin.
Eye ; Humans ; Medical Records ; Ovum ; Retinal Detachment ; Retrospective Studies ; Tomography, Optical Coherence ; Vitelliform Macular Dystrophy

PURPOSE: To evaluated the fluorescein and indocyanine green angiographic findings (FAG and ICGA) of each stage in vitelliform macular dystrophy. METHODS: In this study (3 patients, 6 eyes), the stage of macula lesion was classified as follows: stage A (vitelliform), stage B (pseudohypopyon), stage C (scrambled egg), stage D (early cicatricial), and stage E (advanced cicatricial). RESULTS: At stage A, the lesion was hypofluorescent in the early phase and was hyperfluorescent in the late phase of both FAG and ICGA. At stage B, FAG showed hyperfluorescent in the upper portion and hypofluorescent in the lower portion of the lesion. ICGA showed hypofluorescent in the upper portion. However, ICGA showed hypofluorescent in the early and hyperfluorescent in the late phase in the lower portion. At stage C, the lesion was hypofluorescent in the early phase and hyperfluorescent in the late phase of both FAG and ICGA. At stage D, FAG showed hyperfluorescent and ICGA showed hypofluorescent. At stage E, FAG showed central hypofluorescent lesions and a hyperfluorescent ring. While ICGA showed typically hypofluorescent. CONCLUSIONS: The FAG and ICGA findings showed variable patterns according to the evolution of the lesion.
Fluorescein ; Fluorescein Angiography ; Humans ; Indocyanine Green ; Vitelliform Macular Dystrophy*

PURPOSE: Kinetic automated perimetric tests were performed with OCTOPUS 101 perimeter using Goldmann module. Normal isopter positions in the peripheral visual field were visualized by the average position +/- 2 standard deviations. METHODS: We examined 102 eyes of 51 normal healthy Koreans who had no family history of glaucoma, no specific ophthalmologic disease, best corrected visual acuity more than 1.0 and normal intraocular pressure less than 21 mmHg with OCTOPUS 101 perimeter using Goldmann module in 5 isopters (I1e, I2e, I3e, I4e, II4e) at 8 meridians (0degree, 45degrees, 90degrees, 135degrees, 180degrees, 225degrees, 270degrees, 315degrees). RESULTS: The visual field was oval shape, and widest at the inferotemporal area, followed by temporal, and inferior. CONCLUSIONS: The normal position of 4 isopters can be used as a reference index for the peripheral visual field test.
Glaucoma ; Humans ; Intraocular Pressure ; Meridians ; Octopodiformes* ; Visual Acuity ; Visual Field Tests ; Visual Fields* ; Vitelliform Macular Dystrophy

Vitelliform macular dystrophy, adult type, is a type of pattern dystrophies of the pigment epithelium characterized by autosomal daminant inheritance, mid-life onset and small, round or oval, yellow deposits located at the level of the pigment epithelium. The authors report a case of this dystrophy which showed small yellow round lesion measuring 1/4-1/3 D.D. within the macula, normal electroretinogram, subnormal electrooculogram light-peak/dark-traugh ratio. typical irregular ring-like transmitted fluorescence surrounding the central non-fluorescent Iesion and leakage from perifoveal capillaries on fluorescent angiogram.
Adult* ; Capillaries ; Electrooculography ; Epithelium ; Fluorescence ; Humans ; Vitelliform Macular Dystrophy* ; Wills

We examined a 28-year-old male patient with pseudohypopyon in vitelliform macular dystrophy. The ocular fundi showed round cystoid lesions in the macula with clear fluid superiorly and yellow material inferiorly. Fluorescein angiography showed hyperfluorescent defects in the retinal pigment epithelium of the superior half of the lesion and blocked fluorescence in the area of the yellow material in feriorly. The electroretinography was normal and the electro-oculographic findings were abnormal.
Adult ; Electroretinography ; Fluorescein Angiography ; Fluorescence ; Humans ; Male ; Retinal Pigment Epithelium ; Vitelliform Macular Dystrophy*