Hereditary macular degeneration is characterized by bilateral degenerative changes in the macular area without a simultaneous degeneration in the central nervous system. This hereditary macular degeneration was first described by Rayner Battern in 1897. Since then, not only this degeneration but also many other types of hereditary macular degeneration have been described. In 1940, Behr classified macular degeneration into six types: Infantile, Juvenile, Adolescent, Adult, Presenile, Senile types. In 1973, Hughes classified this degeneration, by electro-and psychophysiologic evidence, as; 1) Progressive cone degeneration mainly affecting the photoreceptors; 2) Stargardt's disease or fundus flavimacultus type II; 3) Best's disease or vitelliform degeneration probably affecting primarily the basal portion of the pigment epithelium cells; 4) Doyne's or hereditary drusen affecting Bruch's membrane; and 5) Central choroid sclerosis affecting the choriocapillaries. Upon reviewing the literatures relating to this disease, two case reports have been included here of hereditary macular degeneration without apparent cause which involved a brother and sister of one family.
Adolescent ; Adult ; Bruch Membrane ; Central Nervous System ; Choroid ; Epithelium ; Humans ; Macular Degeneration* ; Sclerosis ; Siblings* ; Vitelliform Macular Dystrophy

PURPOSE: To evaluate the repeatability of macular thickness and total macular volume measurements made using spectral domain optical coherence tomography (OCT) in normal subjects and subjects with macular disease. METHODS: Among a total of 108 subjects, there were 50 normal subjucts, 20 patients with diabetic macular edema, 10 patients with retinal vein occlusion, 15 patients with age-related macular degeneration, and 13 subjects with other conditions. Two serial macular measurements were obtained from each subject by a single experienced examiner using spectral domain OCT. The repeatability of the measurements was evaluated by comparing two consecutive foveal and perifoveal thickness measurements and total macular volume measurements. The intraclass correlation coefficient was also calculated to evaluate the repeatability of measurements made in normal and macular disease subjects. Result: Spectral domain OCT measurements of macular thickness and macular volume were found to be consistent. Measurements of normal subjects were the most consistent, followed by measurements of patients with age-related macular degeneration, retinal vein occlusion, and diabetic macular edema. CONCLUSIONS: Although measurements made using spectral domain OCT were repeatable across all subjects, they were more consistent in normal subjects than in patients with macular disease. The differences in repeatability should be considered in the context of diseased pathologic anatomy. Physicians should remain cautious when using these measurements for clinical evaluation.
Humans ; Macular Degeneration ; Macular Edema ; Retinal Vein Occlusion ; Tomography, Optical Coherence

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 evaluate the safety and visual outcome of intravitreal triamcinolone acetonide combined with photodynamic therapy for subfoveal choroidal neovascularization in patients with age-related macular degeneration. METHODS: We evaluated 32 eyes of 32 patients with choroidal neovascularization due to age-related macular degeneration. The study group received photodynamic therapy and intravitreal triamcinolone acetonide (combined group), while the control group received photodynamic therapy only (PDT group). RESULTS: Three months after treatment, no difference was detected between the two groups in visual acuity changes (p>0.05), but the leakage in fluorescein angiography and macular edema in optical coherent tomography decreased (p<0.05) in the combined group. The retreatment rate in the combined group (6.0%) after 3 months was lower than that of the PDT group (53.3%). CONCLUSIONS: Photodynamic therapy with intravitreal triamcinolone acetonide to choroidal neovascularization reduced the retreatment rate at 3 months significantly. These results may have been be due to the short-term anti-inflammatory effect of steroids.
Choroid* ; Choroidal Neovascularization* ; Fluorescein Angiography ; Humans ; Macular Degeneration* ; Macular Edema ; Photochemotherapy* ; Retreatment ; Steroids ; Triamcinolone Acetonide* ; Triamcinolone* ; Visual Acuity

We analysed a retrospective study of 22 aphakic bullous keratopathy patients (22 eyes) with penetrating keratoplasty for 5 years from January 1987 to December 1991 in the Department of Ophthalmology at St. Mary's Hospital, Catholic University Medical College. The results were as follows; 1. Of the 22 eyes with aphakic bullous keratopathy 16 eyes (72.7%) had previously undergone intracapsular cataract extraction, 6 eyes (27.3%) had extracapsular cataract extraction. 2. The mean time from cataract extraction to aphakic bullous keratopathy to penetrating keratoplasty was 13.8 months. 3. After keratoplasty, the visual acuity of 20 among the 22 transplants (90.9%) were significantly improved compared to the preoperative levels, however that of 2 among the 22 transplants were worse than the preoperative levels. The factors limiting postoperative visual acuity were senile macular degeneration and graft failure. 4. Postoperative complications were glaucoma (2 eyes, 9.1%), cystoid macular edema (1 eye, 4.6%) and graft failure (1 eye, 4.6%).
Cataract Extraction ; Corneal Transplantation ; Glaucoma ; Humans ; Keratoplasty, Penetrating* ; Macular Degeneration ; Macular Edema ; Ophthalmology ; Postoperative Complications ; Retrospective Studies ; Transplants ; Visual Acuity

We analysed a retrospective study of 22 aphakic bullous keratopathy patients (22 eyes) with penetrating keratoplasty for 5 years from January 1987 to December 1991 in the Department of Ophthalmology at St. Mary's Hospital, Catholic University Medical College. The results were as follows; 1. Of the 22 eyes with aphakic bullous keratopathy 16 eyes (72.7%) had previously undergone intracapsular cataract extraction, 6 eyes (27.3%) had extracapsular cataract extraction. 2. The mean time from cataract extraction to aphakic bullous keratopathy to penetrating keratoplasty was 13.8 months. 3. After keratoplasty, the visual acuity of 20 among the 22 transplants (90.9%) were significantly improved compared to the preoperative levels, however that of 2 among the 22 transplants were worse than the preoperative levels. The factors limiting postoperative visual acuity were senile macular degeneration and graft failure. 4. Postoperative complications were glaucoma (2 eyes, 9.1%), cystoid macular edema (1 eye, 4.6%) and graft failure (1 eye, 4.6%).
Cataract Extraction ; Corneal Transplantation ; Glaucoma ; Humans ; Keratoplasty, Penetrating* ; Macular Degeneration ; Macular Edema ; Ophthalmology ; Postoperative Complications ; Retrospective Studies ; Transplants ; Visual Acuity

To evaluate the various factors related to the development of electric cataract in electric burn patients, we reviewed medical charts of 663 electric burn patients who were admitted to the department of General Surgery in Hanil General Hospital between 1981 and 1993. Eleven patients(1.7%) had electric cataract in both eyes. All of them were injured by contact with 22,900 voltage current, and developed third degree burns. Fifty-eight electric burn patients had their electric inputs through their head and eight (13.8%) among them developed cataracts. Only three(0.5%) among 567 electric burn patients who had their electric inputs through upper extremities developed cataracts. The interval between the electric injury and the diagnosis was 2 to 18 months. Anterior subcapsular opacity was the most common type of lenticular opacity. Other associated ocular complications included uveitis, macular edema, macular degeneration, and macular hole.
Burns ; Burns, Electric ; Cataract* ; Diagnosis ; Electric Injuries ; Head ; Hospitals, General ; Humans ; Macular Degeneration ; Macular Edema ; Retinal Perforations ; Upper Extremity ; Uveitis

Objective: To determine the range of macular pigment optical density (MPOD) levels in healthy Filipino adults using both the MPS II and the macuscope and to investigate whether age and sex were related to inter-subject variations in MPOD. Methods: This was a prospective, cross sectional study of 168 healthy Filipino patients who underwent heterochromic filter photometry to measure macular pigment levels using the MPS II and the macuscope. The MPOD levels were averaged per age group and analyzed as to variations among age and gender. Results: One hundred thirty (130) and thirty-eight (38) patients underwent MPS II and macuscope testing respectively. The mean MPOD level for MPS II was 0.39(±0.16) and for macuscope 0.27(±0.07). MPOD values were similar across all age groups and gender, but they were lower when measured with the macuscope. Conclusions MPOD levels measured among healthy Filipino adults were lower with the macuscope compared to the MPS II. These differences should take into consideration the differences in apparatus and techniques of measurement.
Macular Degeneration ; Zeaxanthins

BACKGROUNDLarge drusen is a known risk factor for the development of late complications of age-related macular degeneration (AMD) and drusen reduction has been found by our previous study. To prospectively evaluate the efficacy and safety of prophylactic laser treatment in Chinese patients with bilateral soft drusen, we examined the structure and function of the macula 8 years after treatment.

METHODSTen patients with more than 10 soft drusen (> 125 mm) and best corrected visual acuity ≥ 20/25 in each eye participated in the study. One eye, with relatively more drusen, was exposed to an argon laser (514 nm) to achieve a barely visible retinal lesion. The contralateral eye was used as a control. Fluorescein angiography, Amsler tests, Fourier-domain optical coherence tomography and visual evoked potential tests were carried out 8 years later.

RESULTSNo choroidal neovascularization was seen in the laser-treated eyes or control eyes. There were no significant differences in visual acuity or P100 latency and amplitude between the laser treated eyes and contralateral eyes (t = 1.685, 1.184; P > 0.05). The thickness of the retinal pigment epithelium of the treated eyes was less than that of the contralateral eyes (t = -4.540; P < 0.05). The full retinal thickness in treated eyes was slightly, but insignificantly, reduced relative to contralateral eyes (t = -1.746; P > 0.05).

CONCLUSIONSThe treatment was associated with a reduction in retinal pigment epithelium thickness elevation compared with the contralateral eyes. Macular function was not impaired.

Aged ; Aged, 80 and over ; Female ; Humans ; Laser Coagulation ; methods ; Male ; Middle Aged ; Retinal Drusen ; surgery ; Wet Macular Degeneration ; surgery

PURPOSE: To evaluate the functional and anatomical statuses of macula with multifocal electroretinogram (mfERG) and optical coherence tomography (OCT) for the treatment of patients with macular edema after intravitreal bevacizumab injection. METHODS: Patients were injected with intravitreal bevacizumab (1.875 mg/0.075 ml) for macular edema with choroidal neovascularization (CNV), diabetic retinopathy and retinal vein occlusion. RESULTS: A total of 120 eyes (96 patients) were diagnosed with diabetic retinopathy, CNV with age-related macular degeneration and retinal vein occlusion. Visual acuity improved from logMAR 0.85+/-0.39 to 0.54+/-0.38 after intravitreal bevacizumab injection. The implicit time of P1 and N2 in mfERG decreased, and the amplitude of P1 showed a statistically significant increase. Central macular thickness decreased from 374.4+/-135.2 micrometer to 249.0+/-72.0 micrometer. CONCLUSIONS: After intravitreal bevacizumab injection, functional and anatomical statuses of mfERG and OCT improved. This study demonstrates a method for utilizing mfERG to assess the effectiveness of treatments such as bevacizumab.
Antibodies, Monoclonal, Humanized ; Choroid ; Choroidal Neovascularization ; Diabetic Retinopathy ; Eye ; Humans ; Macular Degeneration ; Macular Edema ; Retinal Vein Occlusion ; Tomography, Optical Coherence ; Visual Acuity ; Bevacizumab