scholarly journals Laurence Moon Bardet Biedl Syndrome Presenting as Refractory Hyperkalaemia - Explore Everything

2021 ◽  
Vol 10 (34) ◽  
pp. 2945-2947
Author(s):  
Maharshi Patel ◽  
Dhruv Talwar ◽  
Aayush Dubey ◽  
Sunil Kumar
Keyword(s):  
Renal Failure ◽  
Retinitis Pigmentosa ◽  
Night Blindness ◽  
Retinal Dystrophy ◽  
Hereditary Disease ◽  
Gait Ataxia ◽  
Bardet Biedl Syndrome ◽  
Tunnel Vision ◽  
Gradual Loss ◽  
Renal Abnormalities

Laurence Moon Bardet Biedl syndrome (LMBBS) / Bardet–Biedl disorder (BBS) is an uncommon hereditary disease that is autosomally recessive. It is described by obesity, mental hindrance, dysphoric furthest points (syndactyly, brachydactyly, or polydactyly), retinal dystrophy or retinitis pigmentosa, hypogonadism, and renal abnormalities (among the prevailing aspects).1 LMBBS shares its similarities with Oliver McFarlane syndrome [OMS]. Many patients experienced a gradual loss of vision as a result of retinitis pigmentosa. In retinitis pigmentosa, initially, patients will have night blindness which can be progressed into colour blindness and tunnel vision. Patients of LMBBS may have taurodontism, the condition in which the tooth’s body is greater than the roots.2 Patients of LMBBS can develop chronic renal failure.3 Other features such as brachycephaly, learning disability and gait ataxia can be found in LMBBS patients.

Retinal Transplantation, Stem Cell and Gene Therapy in Retinitis Pigmentosa

2021 ◽  
pp. 131-139
Keyword(s):  
Gene Therapy ◽  
Stem Cell ◽  
Retinitis Pigmentosa ◽  
Retinal Dystrophy ◽  
Gene Replacement ◽  
Disease Genes ◽  
Functional Roles ◽  
Tunnel Vision ◽  
Hereditary Retinal Dystrophy ◽  
Cell And Gene Therapy

Retinitis pigmentosa is the most common hereditary retinal dystrophy which has marked clinical and genetic heterogeneity. Common presentations among this disorder include night blindness, tunnel vision, and subsequent progression to complete blindness respectively. The known causative disease genes have a variety of developmental and functional roles, with mutations in more than 120 genes shown to be responsible for the phenotypes. In addition, mutations within the same gene have been shown to cause different disease phenotypes, even within the same family, highlighting further levels of complexity. In recent years significant advancements have been made in the understanding of the pathogenesis of the disease and stem cell and gene replacement treatments have been proposed as potentially efficacious therapies. This review summarizes the clinical development of retinal stem cell and gene therapy.

scholarly journals A 13-year-old Female with Bardet- Biedl Syndrome - A Case Report

2015 ◽  
Vol 26 (1) ◽  
pp. 31-34
Author(s):  
Syed Nesar Ahmed ◽  
Md Abu Shahin ◽  
Romal Chowdhury ◽  
Alamgir Mustak Ahammad ◽  
Md Nahiduzzaman Shazzad ◽  
...  
Keyword(s):  
Case Report ◽  
Retinitis Pigmentosa ◽  
Rare Disease ◽  
Clinical Features ◽  
Night Blindness ◽  
Learning Difficulties ◽  
Laboratory Findings ◽  
Bardet Biedl Syndrome

Bardet Biedl syndrome is a rare disease. A case report is presented here where a 13 years old girl presented with obesity, night blindness, learning difficulties and polydactyly. Obesity and night blindness started from since childhood. Her milestones of development were normal but having some learning difficulties. Her parents are healthy as well as her siblings. On examination she looks apathy, extreme obese, having polydactyly and retinitis pigmentosa and high B.P. On laboratory findings there is only dyslipidaemia. On the basis of clinical features she was diagnosed as a case of Bardet-Biedl syndrome.Bangladesh J Medicine Jan 2015; 26 (1) : 31-34

scholarly journals Lamellar hole-associated epiretinal membrane in retinitis pigmentosa: a surgical correlation

2020 ◽  
Vol 2 (4) ◽  
pp. 293-299
Author(s):  
Cheau Wei Chin ◽  
Kiet Phang Ling
Keyword(s):  
Retinitis Pigmentosa ◽  
Macular Hole ◽  
Epiretinal Membrane ◽  
Retinal Dystrophy ◽  
Internal Limiting Membrane ◽  
Hereditary Disease ◽  
Tissue Loss ◽  
Retinal Tissue ◽  
Macular Holes ◽  
Lamellar Hole

Retinitis pigmentosa (RP) is a rare hereditary disease, yet it is the commonest cause of retinal dystrophy. Although lamellar hole-associated epiretinal membrane (LHEP) is commonly associated with macular holes, the development of macular holes in RP itself is rare. In this article, we report a rare case of bilateral LHEP in RP, and the surgical outcome of LHEP embedding and internal limiting membrane (ILM) flap in repairing a lamellar macular hole (LMH). A 57-year-old woman who had RP with bilateral LHEP underwent a combination of cataract and vitrectomy surgery in her left eye. We preserved LHEP tissue and performed an ILM flap to avoid a iatrogenic full-thickness macular hole (FTMH) and facilitate LMH closure. Her right eye was monitored conservatively. At 2 weeks postoperative, the LMH in her left eye was anatomically repaired. There was limited improvement of visual acuity, which could be justified by disruption of the junction between the photoreceptors’ inner and outer segments (IS/OS junction) as evidenced by spectral-domain optical coherence tomography (SD-OCT). The presence of LHEP in LMH is highly associated with disruption of the IS/OS junction and therefore patients should be counselled regarding guarded visual improvement post-vitrectomy. LHEP, which is derived from a Müller cell-driven process, is closely associated with LMH in RP, likely due to the progressive retinal tissue loss as a result from the disease nature of RP. Therefore, we suggest preserving LHEP tissue and performing an ILM flap as an improvised technique to avoid iatrogenic FTMH and facilitate LMH closure.

scholarly journals Two Brothers with Bardet-Biedl Syndrome Presenting with Chronic Renal Failure

2015 ◽  
Vol 2015 ◽  
pp. 1-5
Author(s):  
Cem Sahin ◽  
Bulent Huddam ◽  
Gulhan Akbaba ◽  
Hasan Tunca ◽  
Emine Koca ◽  
...  
Keyword(s):  
Renal Failure ◽  
Mental Retardation ◽  
Chronic Renal Failure ◽  
Renal Damage ◽  
Autosomal Recessive ◽  
Retinal Dystrophy ◽  
Genital System ◽  
Bardet Biedl Syndrome ◽  
Common Cause ◽  
Advanced Stages

Bardet-Biedl Syndrome (BBS) is a rarely seen autosomal recessive transfer disease characterised by retinal dystrophy, obesity, extremity deformities, mental retardation, and renal and genital system anomalies. BBS shows heterogenic transfer. To date, 18 genes (BBS1–18) and 7 BBS proteins have been defined as related to BBS. All of the defined BBS genes have been shown to be related to the biogenesis or function of cilia. Renal failure accompanying the syndrome, especially in the advanced stages, is the most common cause of mortality. Therefore, as one of the major diagnostic criteria, renal damage is of great importance in early diagnosis. This paper presents the cases of two brothers with BBS who presented with chronic renal failure.

Ayurvedic management of Retinitis Pigmentosa (Doshandha) - A Case Study

2017 ◽  
Vol 2 (05) ◽  
Author(s):  
Anju D. ◽  
Pushpa Raj Poudel ◽  
Ajoy Viswam ◽  
Ashwini M. J.
Keyword(s):  
Retinitis Pigmentosa ◽  
Low Vision ◽  
Symptomatic Relief ◽  
Retinal Dystrophy ◽  
Treatment Protocol ◽  
Signs And Symptoms ◽  
Photoreceptor Cells ◽  
Rod Photoreceptor ◽  
Night Time ◽  
Initial Symptoms

Retinitis pigmentosa (RP) is an inherited, degenerative eye disease that causes severe vision impairment due to the progressive degeneration of rod photoreceptor cells in retina. This form of retinal dystrophy manifests initial symptoms independentof age; thus, RP diagnosis occurs anywhere from early infancy to late adulthood. This primary pigmentary retinal dystrophy is a hereditary disorder predominantly affecting the rods more than the cones. The main classical triads of retinitis pigmentosa are arteriolar attenuation, Retinal bone spicule pigmentation and Waxy disc pallor. The main treatment of retinitis pigmentosa is by using Low vision aids (LVA) and Genetic counseling. As such a complete cure for retinitis pigmentosa is not present. So a treatment protocol has to be adopted that helps in at least the symptomatic relief. In Ayurveda, the signs and symptoms of this can be compared with the Lakshanas of Doshandha which is one among the Dristigata Roga. It is considered as a diseased condition in which sunset will obliterate the Dristi Mandala and makes the person blind at night time. During morning hours the rising sunrays will disperse the accumulated Dosas from Dristi to clear vision. This disease resembles Kaphajatimira in its pathogenesis, but the night blindness is the special feature. Since the disease is purely Kaphaja, a treatment attempt is planned in Kaphara and Brimhana line. The present paper discusses a case of retinitis pigmentosa and it’s Ayurvedic Treatment.

scholarly journals Bardet Biedl Syndrome: A Rare Case Report in a Tertiary Care Teaching Hospital, Dhaka, Bangladesh

2021 ◽  
Vol 3 (1) ◽  
pp. 11-14
Author(s):  
Sadia Saber ◽  
Mohammad Dabir Hossain ◽  
Mohammed Tarek Alam ◽  
Mohammad Monower Hossain ◽  
Suhail Gulzar
Keyword(s):  
Rare Case ◽  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Tertiary Care ◽  
Consanguineous Marriage ◽  
Bardet Biedl Syndrome ◽  
Excessive Weight ◽  
Rare Case Report ◽  
Males And Females ◽  
Renal Abnormalities

Bardet Biedl Syndrome (BBS) is an infrequent ciliopathic autosomal recessive genetic disorder that produces many effects and affects various body systems. Consanguineous marriage is conventionally considered as the most frequent etiology. The primary characteristics of the disorder are gradual visual impairment caused by retinal abnormalities, excessive weight gain, learning disabilities, Postaxial Polydactyly, Hypogonadism in males, renal abnormalities (kidney malformations and/or malfunctions). It affects both males and females. There is currently no specific cure for BBS but children with BBS benefit greatly from therapies like physical, occupational, speech and vision services. We, here, have presented a young boy of 15 years with the features of Bardet Biedl Syndrome.

scholarly journals Rare Co-Occurrence of Visual Snow in a Female Carrier With RPGRORF15-Associated Retinal Disorder

2021 ◽  
Vol 12 ◽  
Author(s):  
Aekkachai Tuekprakhon ◽  
Aulia Rahmi Pawestri ◽  
Ragkit Suvannaboon ◽  
Ketwarin Thongyou ◽  
Adisak Trinavarat ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Disease Onset ◽  
Retinal Dystrophy ◽  
Female Carrier ◽  
Ophthalmological Examination ◽  
Early Disease ◽  
Rare Form ◽  
Inactivation Pattern ◽  
Retinal Disorder ◽  
Female Carriers

X-linked retinitis pigmentosa (XLRP), a rare form of retinitis pigmentosa (RP), is predominantly caused by mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene. Affected males often present with severe phenotypes and early disease onset. In contrast, female carriers are usually asymptomatic or show stationary phenotypes. Herein, we reported an 8-year-old female carrier, a daughter of a confirmed RP father with RPGR mutation, with an early onset of progressive cone-rod pattern retinal dystrophy. Additionally, the carrier experienced visual snow-like symptom as long as she recalled. Ophthalmological examination showed the reduction of visual acuity and attenuation of photoreceptor functions since the age of 5 years. Further analysis revealed a heterozygous pathogenic variant of the RPGR gene and a random X-inactivation pattern. Although she harboured an identical RPGR variant as the father, there were phenotypic intrafamilial variations. The information on the variety of genotypic and phenotypic presentations in XLRP carriers is essential for further diagnosis, management, and monitoring of these cases, including the design of future gene therapy trials.

Retinal Diseases with Ciliopathies

2021 ◽  
pp. 271-278
Keyword(s):  
Retinitis Pigmentosa ◽  
Outer Segment ◽  
Usher Syndrome ◽  
Joubert Syndrome ◽  
Retinal Diseases ◽  
Bardet Biedl Syndrome ◽  
Retinal Photoreceptors ◽  
Underlying Mechanisms ◽  
Larsson Syndrome ◽  
Functional Defects

Ciliopathies are a group of diseases that affects cells containing the cilia organel. Retinal involvement is frequent in ciliopathies. The outer segment of retinal photoreceptors is composed of the cilium. Functional defects limited to the photoreceptors cilia, in particular, are classified as non-syndromic ciliopathies like Leber congenital amaurosis and retinitis pigmentosa. Photoreceptor disease also manifests as a part of syndromic ciliopathies with the involvement of multiple tissues as Usher syndrome, Joubert syndrome, Meckel-Gruber syndrome, Senior-Loken syndrome, Sjögren-Larsson syndrome, Bardet-Biedl syndrome, and Alstrom syndrome. Underlying mechanisms of pathology remain largely unclear in these diseases. Symptoms are treated using current methods. This paper describes the pathogenesis, clinics, diagnosis, and treatment of retinal diseases occurring due to ciliopathy.

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