scholarly journals Ocular Manifestations of Donnai Barrow Syndrome

2020 ◽  
Vol 2 (6) ◽  
Author(s):  
Ayoub Redouan ◽  
Hind Hamdani ◽  
Soukaina Amrani ◽  
Loubna El Maaloum ◽  
Bouchra Allali ◽  
...  
Keyword(s):  
Risk Factor ◽  
Retinal Detachment ◽  
Congenital Malformation ◽  
High Myopia ◽  
Autosomal Recessive ◽  
Clinical Case ◽  
Autosomal Recessive Disease ◽  
Regular Monitoring ◽  
Ocular Manifestations

Donnai-Barrow syndrome is an autosomal recessive disease due to mutations in the LRP2 gene described by Donnai and Barrow in 1993. We report through this clinical case the various ophthalmologic and extraocular manifestations of Donnai Barrow syndrome which remains a very rare congenital malformation. High myopia is a risk factor for severe amblyopia and/or retinal detachment which requires a regular monitoring. The management of this disabling disease is multidisciplinary, involving the ophthalmologist, the otorhinolaryngologist, the pediatrician and the psychiatrist.

Ophthalmological criteria for choice of optimal mode of delivery in pregnant women with myopia

2019 ◽  
Vol 13 (2) ◽  
pp. 155-163
Author(s):  
O. V. Kolenko ◽  
E. L. Sorokin ◽  
A. A. Fil
Keyword(s):  
Risk Factor ◽  
Intraocular Pressure ◽  
Retinal Detachment ◽  
Pregnant Women ◽  
High Myopia ◽  
Rhegmatogenous Retinal Detachment ◽  
Mode Of Delivery ◽  
Pregnancy And Childbirth ◽  
Pregnancy And Delivery ◽  
Optimal Mode

This review examines the evolution of views and opinions on issues related to the management of pregnancy and childbirth in women with high myopia. Special attention is given to the threat of retinal detachment and its prevention during pregnancy and delivery; the need for improving the diagnosis of retinal abnormalities is also addressed. Our analysis indicates that since the early 1980s, pregnancy associated peripheral vitreochorioretinal dystrophy was considered a leading risk factor for rhegmatogenous retinal detachment during childbirth. Here, we present data on the eye hemodynamics and intraocular pressure in women at the time of delivery. We also discuss current strategies of pregnancy management in women with peripheral vitreochorioretinal dystrophy. In addition, absolute and relative indications for natural delivery in women with high myopia are presented together with ophthalmological requirements for natural delivery.

scholarly journals Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations

2016 ◽  
Vol 2016 ◽  
pp. 1-3
Author(s):  
Manisha Goyal ◽  
Seema Kapoor ◽  
Shiro Ikegawa ◽  
Gen Nishimura
Keyword(s):  
Retinal Detachment ◽  
Short Stature ◽  
High Myopia ◽  
Type I ◽  
Syndrome Type ◽  
Stickler Syndrome ◽  
Ocular Manifestations ◽  
Vitreoretinal Degeneration ◽  
Collagen Tissue

Stickler syndrome or hereditary progressive arthroophthalmopathy is a heterogeneous group of collagen tissue disorders, characterized by orofacial features, ophthalmological features (high myopia, vitreoretinal degeneration, retinal detachment, and presenile cataracts), hearing impairment, mild spondyloepiphyseal dysplasia, and/or early onset arthritis. Stickler syndrome type I (ocular form) is caused by mutation in the COL2A1 gene. Ptosis and uveitis are relatively rare ophthalmological manifestations of this syndrome. We report an Indian boy having 2710C>T mutation in COL2A1 gene demonstrating short stature, ptosis, and uveitis with Stickler syndrome.

scholarly journals Case report of tufting-enteropathy: course of the disease, complexity of morphological diagnosis

2020 ◽  
Vol 9 (4) ◽  
pp. 65-70
Author(s):  
T.A. Garkusha ◽  
◽  
S.V. Gappoev ◽  
V.A. Khorzhevskii ◽  
L.G. Levkovich ◽  
...  
Keyword(s):  
Electron Microscopy ◽  
Cell Adhesion ◽  
Case Report ◽  
Cell Adhesion Molecule ◽  
Autosomal Recessive ◽  
Clinical Case ◽  
Autosomal Recessive Disease ◽  
Ultrastructural Level ◽  
Morphological Diagnosis ◽  
Rare Autosomal Recessive Disease

Tufting enteropathy (TE) is a rare autosomal recessive disease characterized by diarrhea starting in the neo-natal period. This disease was first described in 1994 by Reifen R.M. et al. The disease is caused by muta-tions in the cell adhesion molecule EpCAM. TE is characterized by alterations in the intestinal epithelium: surface enterocytes are primarily affected, and they form tufts. At the ultrastructural level, this disease is characterized by an increase in the length and number of desmosomes. This paper presents a clinical case of TE in a 3-month-old boy who was diagnosed based on clinical and morphological, electron microscopy findings. Diarrheal syndrome developed in the patient from the second day of life and persisted regardless of enteral nutrition and led to severe exsicosis. Keywords: tufting enteropathy, diarrhea, desmosome, enterocyte, microvilli

CLINICAL CASE OF LONG-TERM RESULTS OF KERATO-REFRACTIVE SURGERIES IN A PATIENT WITH A HIGH MYOPIA

2019 ◽  
Vol 21 (4) ◽  
pp. 14-16
Author(s):  
M.A. Frolov ◽  
◽  
P.A. Gonchar ◽  
V.A. Biletskaya ◽  
E.S. Belyaeva ◽  
...  
Keyword(s):  
High Myopia ◽  
Clinical Case ◽  
Long Term Results

scholarly journals Combination of Novel c.3484G> T/p.Glu162Ter Variant in ABCB11 and c.208G> A/p.Asp70Asn Variant in ATP8B1 Are Associated with Severe Symptoms in Progressive Family Intrahepatic Cholestasis

2020 ◽  
Vol 09 (04) ◽  
pp. 285-288
Author(s):  
Mervan Bekdas ◽  
Guray Can ◽  
Recep Eroz ◽  
Selma Erdogan Duzcu
Keyword(s):  
Intrahepatic Cholestasis ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Bile Secretion ◽  
Peripheral Blood Sample ◽  
Portal Fibrosis ◽  
Traditional Treatment ◽  
Pathogenic Variants ◽  
Chronic Cholestasis ◽  
Whole Exome

AbstractProgressive family intrahepatic cholestasis (PFIC) is an autosomal recessive disease that causes chronic cholestasis. It is associated with pathogenic variants in genes that encode proteins involved in bile secretion to canaliculus from hepatocytes. In this study, we present a 16-year-old boy who presented with severe pruritus and cholestatic jaundice. All possible infectious etiologies were negative. A liver biopsy was consistent with intrahepatic cholestasis and portal fibrosis. DNA was isolated from a peripheral blood sample, and whole exome sequencing was performed. A novel c.3484G > T/p.Glu162Ter variant in the ABCB11 gene and a c.208G> A/p.Asp70Asn variant in the ATP8B1 gene were detected. Despite traditional treatment, the patient's recurrent severe symptoms did not improve. The patient was referred for a liver transplantation. This novel c.3484G > T/p.Glu162Ter variant is associated with a severe and recurrent presentation, and the two compound variants could explain the severity of PFIC.

Prevalence and characteristics of foveal retinal detachment without macular hole in high myopia

2003 ◽  
Vol 135 (3) ◽  
pp. 338-342 ◽  
Author(s):  
Takayuki Baba ◽  
Kyoko Ohno-Matsui ◽  
Soh Futagami ◽  
Takeshi Yoshida ◽  
Kenjiro Yasuzumi ◽  
...  
Keyword(s):  
Retinal Detachment ◽  
Macular Hole ◽  
High Myopia

Zinc and Acrodermatitis Enteropathica

1980 ◽  
Vol 2 (3) ◽  
pp. 88-94
Keyword(s):  
Zinc Deficiency ◽  
Autosomal Recessive ◽  
Acid Metabolism ◽  
Autosomal Recessive Disease ◽  
Dna Polymerases ◽  
Clinical Manifestations ◽  
Acrodermatitis Enteropathica ◽  
Nucleic Acid Metabolism ◽  
Zinc Metalloenzymes ◽  
Rna And Dna

Mammalian zinc metalloenzymes include alkaline phosphatase. Zinc plays a crucial role in nucleic acid metabolism. RNA and DNA polymerases and thymidine kinase are zinc-dependent enzymes. Zinc deficiency in North America is most clearly seen in the disease acrodermatitis enteropathica. This is an autosomal recessive disease due to a zinc metabolic error—not well defined—which leads to zinc deficiency. Clinical manifestations include a rash around orifices, alopecia, and diarrhea. The laboratory can demonstrate hypozincemia and hypozincuria. Clinical and biochemical remission occurs with oral zinc administration.(R.H.R.)

Clinical Profile of Myopic Patients as a Risk Factor for Primary Open Angle Glaucoma - A Prospective Observational Study in Gorakhpur, Uttar Pradesh

2021 ◽  
Vol 8 (33) ◽  
pp. 3084-3089
Author(s):  
Ram Kumar Jaiswal ◽  
Ramyash Singh Yadav ◽  
Mridula Ranjan ◽  
Dipti Wahi ◽  
Chiranji Rai
Keyword(s):  
Risk Factor ◽  
Intraocular Pressure ◽  
Observational Study ◽  
High Myopia ◽  
Central Corneal Thickness ◽  
Prospective Observational Study ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Corneal Thickness ◽  
Open Angle

BACKGROUND Myopia is a complex trait including both genetic and environmental factors as well as gene-environment interactions. It has been recognized as a risk factor for development of glaucoma. Both Myopia and raised IOP are known to increase mechanical stress at optic nerve head leading to glaucomatous nerve damage. This study intends to evaluate the clinical profile of myopic subjects and its correlation with Primary open angle glaucoma (POAG). METHODS A prospective observational study done from November 2019 to December 2020 after taking proper informed consent and ethical clearance. 164 eyes of 96 patients studied were divided into three groups, Group 1: low myopia (< -3.00D), Group 2: moderate myopia (-3.00 D to -5.75 D), Group 3: high myopia (≥ -6.00 D). A complete ocular examination was performed. Intraocular pressure was measured using Goldmann applanation tonometer. Visual field analysis using Humphrey automated perimetry was done in patients with suspected primary open angle glaucoma (POAG). Angle parameters and central corneal thickness (CCT) were measured using anterior segment optical coherence tomography (AS-OCT). RESULTS 164 eyes of 96 Myopic subjects were studied with no dropout during study period. Mean age was 46.05 yr. (range: 25-75 yr.). The refraction ranged from -0.50 DS to -17.00 DS. There was no statistically significant difference between Intraocular pressure (IOP), Central corneal thickness (CCT), corrected IOP and Nasal and Temporal Trabecular-iris Angle (TIA) between male and female of same age group. Mean IOP and mean CCT were found to vary significantly with age and with higher degree of myopia. Corrected IOP, Nasal and Temporal TIA increase significantly with higher degree of myopia. Cup-disc ratio (CDR) was found to be significantly higher in patients with moderate to high degree of Myopia. CONCLUSIONS Myopia is an important risk factor for development of primary open angle glaucoma, with its incidence increasing in patients with moderate to high myopia. KEYWORDS Myopia, Primary Open Angle Glaucoma, Intraocular Pressure, Central Corneal Thickness, Trabecular Iris Angle

scholarly journals Afibrinogenemia

Pulse ◽  
2011 ◽  
Vol 4 (1) ◽  
pp. 34-35
Author(s):  
Tahera Nazrin ◽  
Pinkoo Attawar ◽  
Md Moniruzzaman ◽  
I Islam
Keyword(s):  
Interventional Procedures ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Management Plan ◽  
Rare Disorder ◽  
Minor Trauma ◽  
Chromosome 4 ◽  
Spontaneous Bleeding ◽  
Excessive Bleeding ◽  
Polypeptide Chains

Afibrinogenemia is a rare bleeding disorder with an estimated prevalence of 1:10,00,000 [1, 2]. It is an autosomal recessive disease resulting from mutations in any of the 3 genes that encodes the 3 polypeptide chains of fibrinogen and are located on the long arm of chromosome 4 3. Spontaneous bleeding, bleeding after minor trauma, and excessive bleeding during interventional procedures are the principal manifestations [2, 4]. Here we have reviewed the process of diagnosing a case of such rare disorder in Apollo Hospitals Dhaka. We have also highlighted the treatment and management plan of such a case.DOI: http://dx.doi.org/10.3329/pulse.v4i1.6964Pulse Vol.4 January 2010 p.34-35

scholarly journals A New Sutureless Illuminated Macular Buckle Designed for Myopic Macular Hole Retinal Detachment

2017 ◽  
Vol 2017 ◽  
pp. 1-7 ◽  
Author(s):  
Ahmed M. Bedda ◽  
Ahmed M. Abdel Hadi ◽  
Mohamed Lolah ◽  
Muhammad S. Abd Al Shafy
Keyword(s):  
Visual Acuity ◽  
Retinal Detachment ◽  
Macular Hole ◽  
High Myopia ◽  
Terminal Part ◽  
Macular Hole Retinal Detachment ◽  
Myopic Macular Hole ◽  
The Mean ◽  
Visual Results

Purpose. To report the anatomic and visual results of a new sutureless illuminated macular buckle designed for patients with macular hole retinal detachment related to high myopia (MMHRD). Design. Prospective nonrandomized comparative interventional trial. Methods. Twenty myopic eyes of 20 patients (mean age, 51.4 years; range, 35–65 years) presenting with MMHRD with a posterior staphyloma, in whom the new buckle was used, were evaluated. The buckle used was assembled from a 5 mm wide sponge and a 7 mm wide silicone tire; it was fixed utilizing the sterile topical adhesive Histoacryl Blue (B Braun, TS1050044FP) which polymerizes in seconds upon being exposed to water-containing substances. The primary outcomes measured included aided visual acuity (BCVA) and optical coherence tomography (OCT) findings. The mean follow-up period was 6 months. Results. Postoperatively, the MH closure was identified by OCT in 8 (40%) eyes. The mean BCVA increased from 0.11 to 0.21 (p<0.005). The axial length of the eyes included decreased from 30.5 mm preoperatively to 29.8 mm (p=0.002) postoperatively. Conclusion. Preparation of the new sutureless macular buckle is simple and easy. Illumination of the terminal part of the buckle ensures proper placement. Histoacryl Blue is effective in fixing the buckle in its place for at least 6 months with no reported intra- or postoperative complications.

Sign in / Sign up

Export Citation Format

Share Document