An analysis of four patients with congenital stationary night blindness showed that all had essentially normal fundi. We studied electro physiologic examinations including electroretinogram(ERG), electrooculogram(EOG) and pattern visual evoked potential(VEP). We classified these patients into two groups, one case as Schubert-Bornschein type and three cases as Riggs type based on the evaluation of scotopic and single bright flash ERG. The oscillatory potentials were absent in one case of Schubert-Bornschein type and reduced in two cases of Riggs type. The hereditary mode of three patients in one family was autosomal dominant.
Diagnosis* ; Humans ; Night Blindness*

PURPOSE: To report on the classification of congenital stationary night blindness (CSNB) and multifocal ERG findings. METHODS: We studied three patients (case 1-3) with night blindness but normal fundus and one patient (case 4) with decreased vision after trauma with respect to the patients' medical history, familial history, refraction, slit lamp examination, fundus examination, FAG, ERG, and multifocal ERG. RESULTS: The ERG in case 1 showed a decreased rod response, and this patient was diagnosed with Riggs-type CSNB. The typical "negative ERG" was found in all three cases of ERG (except case 1), and these cases were diagnosed with Schubert-Bornschein-type CSNB. Based on Miyake's classification, case 2 was incomplete, and cases 3 and 4 were complete. The mfERG of the cases with complete Schubert-Bornschein type had delayed implicit times of the first-order kernel and decreased amplitudes of the second-order kernel. The delayed implicit times and the decreased amplitudes of the first- and second-order kernels were found in the cases of Riggs- type and incomplete Schubert-Bornschein-type.
Classification* ; Humans ; Night Blindness*

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

Oguchi's disease is an unusual form of congenital stationary night blindness that is characterized by a peculiar grey-white discoloration of the retina that gives a metallic sheen. After prolonged dark adaptation, the unusual fundus discoloration disappeared and the retina slowly reverted to its original metallic color after exposure to the light. A 20-year-old man was referred for study because of a complaint of night blindness since childhood. As results of diagnostic work up, especially based on typical ocular fundus finding, dark adaptometry and electrophysiologic studies of the retina the authors have diagnosed as a Oguchi's disease. We report this case with the review of the literature.
Dark Adaptation ; Humans ; Night Blindness ; Retina ; Young Adult

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

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

Gyrate atrophy of choroid and retina is a rare hereditary disorder, which is characterized by progressive decrease of visual acuity, nyctalopia, visual field constriction and posterior subcapsular cataract. The authors experienced a case of gyrate atrophy of choroid and retina in a 22 year-old male.
Cataract ; Constriction ; Gyrate Atrophy* ; Humans ; Male ; Night Blindness ; Visual Acuity ; Visual Fields ; Young Adult

Retinitis pigmentosa has been recognized as a symmetrical, bilateral, hereditary, tapetoretinal degeneration with night blindness, visual field loss, and abnormal ERG. Unilateral retinitis pigmentosa is a rather rare disease. Pedraglia described first reported a case of suspected unilateral retinitis pigmentosa in 1865. Francois and Verriest proposed the following four criteria of the unilateral retinitis pigmentosa: the presence of functional changes ophthalmoscopically typical primary pigmentary degeneration in the affected eye, the absence of a tapetoretinal dystrophy in the fellow eye with normal ERG over five years and exclusion of the inflammatory cause in the affected eye. We report a case of unilateral retinitis pigmentosa in 29 year-old female who has been followed for over five years.
Adult ; Female ; Humans ; Night Blindness ; Rare Diseases ; Retinitis Pigmentosa* ; Retinitis* ; Visual Fields

Night blindness is not an uncommon symptom and may occur in a wide variety of disease.However, the occurrence of acquired unilateral night blindness that has no specific clinical symptoms and signs including retinal pigment degeneration is very rare. We studied patient's family history, ocular examinations, perimetry, fluorescein angiography, electroretinogram, visual evoked potential and electrooculogram. No ocular abnormality could be found on clinical examination including fundus examnination in both eyes.Two patients had hyperfluo-rescence of optic disc in late phase of fluorescein angiography, and signifi-cantly reduced b wave and intact a wave were registered in the scotopic electroretinogram. We report 2 cases of acquired unilateral night blindness that have similar clinical findings with congenital stationary night blindness[CSNB]and melanoma-associated retinopathy[MAR].
Electrooculography ; Evoked Potentials, Visual ; Fluorescein Angiography ; Humans ; Night Blindness* ; Retinaldehyde ; Visual Field Tests

Retinitis pigmentosa without pigment is a varient of retinitis pigmentosa which is a hereditory disorder. It is characterized by decreased visual acuity, night blindness and contraction of visual field in both eyes. A 42-year old male patient was complained of decreased visual acuity and night blindness. And Pt was diagnosed as retinitis pigmentosa without pigment with clinical symptoms and signs, ophthalmoscopic findings, fluorescein angiography and electroretinogram. So authors report a case of retinitis pigmentosa without pigment and a brief reviews of literatures.
Adult ; Fluorescein Angiography ; Humans ; Male ; Night Blindness ; Retinitis Pigmentosa* ; Retinitis* ; Visual Acuity ; Visual Fields