• Journal of Genetic Medicine
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• 제10권1호
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• pp.13-19
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• 2013

Retinitis pigmentosa (RP) is the most common hereditary retinal disorder and is characterized by progressive retinal degeneration and decline in vision. RP comprises a heterogeneous group of disorders caused by various genetic variants. Since the first discovery of the causal mutation in the RHO gene using positional cloning, numerous mutations have been detected in more than 60 loci and 50 genes. However, causal genes have not been discovered in about 50% of cases. We attempt here to review the strategies to identify causal alleles of retinitis pigmentosa. These include conventional methods as well as state-of-the-art technologies based on next-generation sequencing.

• 한방안이비인후피부과학회지
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• 제19권3호통권31호
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• pp.224-231
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• 2006

대전대학교 부속 한방병원 안이비인후피부과에서 유전성 망막색소변성 진단받은 63세 남자환자에 대학 기혈량휴(氣血兩虧), 간신부족(肝腎不足)로 변증하여 보간신치료법(補肝腎治療法)으로 9개월간의 팔물탕가미방(八物湯加味方)과 안구주의 전침술을 시행하여 임상 증상 호전을 경험한 예가 있어 문헌 고찰과 함께 보고하는 바이다.

• Investigative Magnetic Resonance Imaging
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• 제22권2호
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• pp.119-122
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• 2018

Neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome is a rare maternally inherited mitochondrial disorder. Radiologic findings in NARP syndrome are varied; they include cerebral and cerebellar atrophy, basal ganglia abnormalities, and on rare occasions, leukoencephalopathy. This article describes an extremely rare case of NARP syndrome mimicking mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS).

• 한국멀티미디어학회논문지
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• 제15권6호
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• pp.701-710
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• 2012

망막색소변성(RP: Retinitis Pigmentosa)이란 가장 흔한 유전성 망막질환이다. 정상적인 사회활동을 영위하던 사람들이 이 질병으로 시력이 손상되면서 좌절과 고통을 겪는다. 또한 국가적 차원에서 이들의 경제활동이 끊김에 따라 경제활동 인구 감소에 따른 손실 또한 크다고 하겠다. 이에 망막색소변성 질환에 대한 임상 예후 정보를 제공할 수 있는 연구기반이 절실히 요구되고 있다. 본 연구는 망막색소변성 데이터에 대한 패턴 분류를 통해 예후 예측이 가능함을 제안한다. 기존에는 주로 SPSS등을 활용한 통계 처리 결과가 데이터 분석에 적용되었다. 그러나 본 연구에서는 기계학습과 자동 패턴 분류를 실험하였다. SVM(Support Vector Machine)과 여러 다양한 패턴분류기들을 실험을 위해 사용하였다. 제안한 방법은 SVM 분류기에 의하여 RP 데이터가 자동적으로 분류된 결과를 바탕으로 예후 예측이 가능함을 확인하였다.

• Childhood Kidney Diseases
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• 제2권2호
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• pp.200-203
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• 1998

The Laurence Moon-Bardet Biedl syndrome is characterized by obesity, mental retardation, visual impairment with retinitis pigmentosa, polydactyly, hypogonadism and renal manifestations. We experienced an 11 years old female with Laurence Moon-Baret Biedl syndrome associated chronic renal failure. She was diagnosed to have LMB syndrom according to the clinical manifestations of polydactyly on hands and feet, mental retardation, obesity, retinitis pigmentosa and chronic renal failure. She is on maintenance hemodialysis now.

• The Korean Journal of Physiology and Pharmacology
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• 제17권3호
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• pp.229-235
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• 2013

Among several animal models of retinitis pigmentosa (RP), the more recently developed rd10 mouse with later onset and slower rate of retinal degeneration than rd1 mouse is a more suitable model for testing therapeutic modalities. We therefore investigated the time course of retinal degeneration in rd10 mice before adopting this model in our interventional studies. Electroretinogram (ERG) recordings were carried out in postnatal weeks (PW) 3~5 rd10 (n=23) and wild-type (wt) mice (n=26). We compared the amplitude and implicit time of the b-wave of ERG records from wt and rd10 mice. Our results showed that b-wave amplitudes in rd10 mice were significantly lower and the implicit time of b-waves in rd10 mice were also significantly slower than that in wt mice ($20{\sim}160{\mu}V$ vs. $350{\sim}480{\mu}V$; 55~75 ms vs. 100~150 ms: p<0.001) through PW3 to PW5. The most drastic changes in ERG amplitudes and latencies were observed during PW3 to PW4. In multichannel recording of rd10 retina in PW2 to PW4.5, we found no significant difference in mean spike frequency, but the frequency of power spectral peak of local field potential at PW3 and PW3.5 is significantly different among other age groups (p<0.05). Histologic examination of rd10 retinae showed significant decrease in thickness of the outer nuclear layer at PW3. TUNEL positive cells were most frequently observed at PW3. From these data, we confirm that in the rd10 mouse, the most precipitous retinal degeneration occurs between PW3~PW4 and that photoreceptor degeneration is complete by PW5.

• Journal of Interdisciplinary Genomics
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• 제5권1호
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• pp.5-11
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• 2023

β-ureidopropionase (β-UP) is an enzyme that catalyzes the final step in the pyrimidine degradation pathway, which converts β-ureidopropionate and β-ureidoisobutyrate into β-alanine and β-aminoisobutyrate, respectively. β-UP deficiency (UPB1D; OMIM # 613161) is an extremely rare autosomal recessive inborn error disease caused by a mutation in the UPB1 gene on chromosome 22q11. To date, approximately 40 cases of UPB1D have been reported worldwide, including one case in Korea. The clinical manifestations of patients with UPB1D are known to be diverse, with a very wide range of manifestations being previously reported; these manifestations include completely asymptomatic, urogenital and colorectal anomalies, or severe neurological involvement, including global developmental delay, microcephaly, early onset psychomotor retardation with dysmorphic features, epilepsy, optic atrophy, retinitis pigmentosa, severely delayed myelination, and cerebellar hypoplasia. Currently, diagnosis of UPB1D is challenging as neurological manifestations, MRI abnormalities, and biochemical analysis for pyrimidine metabolites in the urine, plasma, and cerebrospinal fluid also need to be confirmed by UPB1 gene mutations. Overall, treatment of patients with UPB1D is palliative as there is still no definitive curative treatment available.

• Childhood Kidney Diseases
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• 제11권1호
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• pp.112-117
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• 2007

저자들은 Leber의 선청성 흑암시를 진단받은 남매에서 성장 부전, 다음, 다뇨 및 야뇨증의 병력 없이 소아기에 만성 신부전으로 진행된 사춘기 콩팥 황폐증을 경험하여 우리나라에서는 드문 $Senior-L\ddot{o}ken$ 증후군을 보고하는 바이다.

• The Korean Journal of Physiology and Pharmacology
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• 제12권6호
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• pp.307-314
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• 2008

Retinal prostheses are being developed to restore vision for the blind with retinal diseases such as retinitis pigmentosa (RP) or age-related macular degeneration (AMD). Among the many issues for prosthesis development, stimulation encoding strategy is one of the most essential electrophysiological issues. The more we understand the retinal circuitry how it encodes and processes visual information, the greater it could help decide stimulation encoding strategy for retinal prosthesis. Therefore, we examined how retinal ganglion cells (RGCs) in in-vitro retinal preparation act together to encode a visual scene with multielectrode array (MEA). Simultaneous recording of many RGCs with MEA showed that nearby neurons often fired synchronously, with spike delays mostly within 1 ms range. This synchronized firing - narrow correlation - was blocked by gap junction blocker, heptanol, but not by glutamatergic synapse blocker, kynurenic acid. By tracking down all the RGC pairs which showed narrow correlation, we could harvest 40 functional connectivity maps of RGCs which showed the cell cluster firing together. We suggest that finding functional connectivity map would be useful in stimulation encoding strategy for the retinal prosthesis since stimulating the cluster of RGCs would be more efficient than separately stimulating each individual RGC.

• 대한의용생체공학회:의공학회지
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• 제30권4호
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• pp.347-354
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• 2009

For the reliable transmission of meaningful visual information using prosthetic electrical stimulation, it is required to develop an effective stimulation strategy for the generation of electrical pulse trains based on input visual information. The characteristics of neuronal activities of retinal ganglion cells (RGCs) evoked by electrical stimulation should be understood for this purpose. In this study, for the development of an optimal stimulation strategy for visual prosthesis, we analyzed the neuronal responses of RGCs in rd1 mouse, photoreceptor-degenerated retina of animal model of retinal diseases (retinitis pigmentosa). Based on the in-vitro model of epiretinal prosthesis which consists of planar multielectrode array (MEA) and retinal patch, we recorded and analyzed multiunit RGC activities evoked by amplitude-modulated electrical pulse trains. Two modes of responses were observed. Short-latency responses occurring at 3 ms after the stimulation were estimated to be from direct stimulation of RGCs. Long-latency responses were also observed mainly at 2 - 100 ms after stimulation and showed rhythmic firing with same frequency as the oscillatory background field potential. The long-latency responses could be modulated by pulse amplitude and duration. From the results, we expect that optimal stimulation conditions such as pulse amplitude and pulse duration can be determined for the successful transmission of visual information by electrical stimulation.