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Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome

Mackay-Shek-Carr Syndrome


Presentation

  • Revised throughout, this new edition presents the latest guidance in clinical examination, randomized trials, medical treatment, laser therapy, and surgical procedures.[books.google.de]
  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • We report a case of a 60–year–old female who presented with bilateral slowly progressive visual loss. The patient presented with bilateral light perception visual acuity, exotropia, brunescent cataract hindering fundus examination and hypodontia.[semanticscholar.org]
  • Mean age at presentation was lower in PM (16.02 15.34 years, range 6 months to 72 years) than in NO group (33.20 19.31 years, range 3–60 years). Age distribution at presentation is shown in Figure 1. Eighty percent of PM presented at Figure 1 ).[nature.com]
Surgical Procedure
  • Revised throughout, this new edition presents the latest guidance in clinical examination, randomized trials, medical treatment, laser therapy, and surgical procedures.[books.google.de]
  • If glaucoma is diagnosed, there are a number of surgical procedures that the ophthalmologist may recommend to help reduce IOP and prevent damage to the child’s vision.[2020aec.com]
  • A review of laser procedures and glaucoma filtration (surgical) procedures can be found in the library of “Eye Procedures” elsewhere in this site.[southwesterneyecare.com.au]
  • procedures 22.0 P * 2353 Schilbach-Rott syndrome 18 Cases 1830 Schimke immuno-osseous dysplasia 71 Cases 798 Schinzel-Giedion syndrome 46 Cases 37748 Schnitzler syndrome 150 Cases 98967 Schnyder corneal dystrophy 115 Cases 50944 Schöpf-Schulz-Passarge[azkurs.org]
  • Since response to medical treatment is poor, even when started early, many surgical procedures have been tried to prevent/treat glaucoma, namely Nd YAG laser iridotomy, iridoplasty, trabeculectomy, sclerotomy and lens extraction [32] .[eyewiki.aao.org]
Physician
  • *Medscape Business of Medicine Academy Survey, September 2015 Learn from Experienced Professionals Courses were developed especially for physicians by business health experts and experienced physicians.[medscape.org]
  • 2012 ISBN 10: 1608316653 ISBN 13: 9781608316656 eISBN: 9781451186031 Edition: 1st The Wills Eye Institute 5-Minute Ophthalmology Consult provides a readily accessible and focused compendium of ophthalmic abnormalities that will be useful for students, physicians[r2library.com]
  • Onset of symptoms is usually between 5 and 10 years of age, when parents or physicians may notice a child has begun to develop vision problems or seizures. … Peroxisome Biogenesis Disorder (Zellweger Spectrum Disorders) March 12, 2018 by Peter Ciszewski[checkrare.com]
  • In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.[rarediseases.info.nih.gov]
  • Journal of the College of Physicians and Surgeons Pakistan. 2008; 18(9): 590-591 [Pubmed] 2 A Novel Mutation Confirms MFRP as the Gene Causing the Syndrome of Nanophthalmos-Renititis Pigmentosa-Foveoschisis-Optic Disk Drusen Crespí, J., Buil, J.A., Bassaganyas[ijo.in]
Movement Disorder
  • This richly illustrated, full color text covers areas such as: malformations; refractive errors, the cornea, glaucoma and cataracts; retina and the optic nerve; eye movement disorders, and systemic disease of the eye.[books.google.de]
  • Disorders Eye Muscle Disorders Eye Paresis Eye Strain Eyelid Disorders Eyelid Lesions Farsightedness Floaters Focal Chorioretinitis and Focal Retinochoroiditis Foreign Body in Eye Foveal and-or Macular Hypoplasia Fuchs' Corneal Dystrophy Giant Papillary[healthgrades.com]
Retinal Pigmentation
  • pigmentation • • • Back to: « Retinal degeneration-nanophthalmos-glaucoma syndrome References Source: Human Phenotype Ontology • • • Note: This site is for informational purposes only and is not medical advice.[familydiagnosis.com]
  • Figure 4 Fundal photograph showing a generalised retinal pigment epithelial disturbance, a prominent yellow macula appearance, retinal folds, and crowded optic discs.[bjo.bmj.com]
  • Fundus examination disclosed punctate hypopigmentation of the retinal pigment epithelium mainly at the posterior pole. Optical coherence tomography showed foveal schisis appearing as small retinal cysts.[bmcophthalmol.biomedcentral.com]
  • Additional features, which are variable and age-dependent, include chorioretinal atrophy with loss of the retinal pigment epithelium (RPE), lattice degeneration of the retina, complicated cataracts, mild myopia, and peripheral traction retinal detachment[mendelian.co]
  • Grierson I, Hiscott P, Hogg P, Robey H, Mazure A, et al. (1994) Development, repair and regeneration of the retinal pigment epithelium. Eye (Lond) 8 : 255-262.[omicsonline.org]
Visual Impairment
  • Symptoms and clinical features of the condition may include: 1 Clinical Features of Retinal degeneration-nanophthalmos-glaucoma syndrome : Visual impairment Abnormal electroretinogram Myopia Microphthalmia Nystagmus Optic atrophy Abnormality of retinal[familydiagnosis.com]
  • Affiliated tissues include eye, and related phenotypes are visual impairment and optic atrophy[malacards.org]
  • impairment Myopia SOURCES: GARD MONDO MESH OMIM SCTID ORPHANET UMLS More info about WAGNER VITREORETINOPATHY; WGVRP Medium match OPTIC ATROPHY 1; OPA1 Autosomal dominant optic atrophy is characterized by an insidious onset of visual impairment in early[mendelian.co]
  • NANOPHTHALMOS 4; NNO4 Is also known as nanophthalmia 4 Related symptoms: Autosomal dominant inheritance Visual impairment Edema Coma Microphthalmia SOURCES: MONDO UMLS OMIM More info about NANOPHTHALMOS 4; NNO4 Medium match ANTERIOR SEGMENT DYSGENESIS[mendelian.co]
  • impairment Impaired vision Loss of eyesight Poor vision [ more ] 0000505 5%-29% of people have these symptoms Nystagmus Involuntary, rapid, rhythmic eye movements 0000639 Percent of people who have these symptoms is not available through HPO Autosomal[rarediseases.info.nih.gov]
Night Blindness
  • blindness Night-blindness Poor night vision [ more ] 0000662 Shallow anterior chamber 0000594 Showing of 15 Last updated: 5/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease[rarediseases.info.nih.gov]
  • Case report A 32-year-old Asian woman, born of a consanguineous marriage was initially examined at our institution in May 1993 with complaints of poor vision and night blindness in the left eye since childhood.[ijo.in]
  • Blindness Ocular Hypertension Photorefractive Keratotomy Complications (Early) Photorefractive Surgery Complications (Late) Pigmented Conjunctival Lesion(s) Proptosis Ptosis Recurrent Corneal Erosion Syndrome Retinal Detachment Retinal Hemorrhage Retinal[catalyst.library.jhu.edu]
  • Patients with additional ocular features such as progressive nyctalopia (night blindness), visual field constriction, and chorioretinal atrophy, with loss of RPE and choriocapillaries on fluorescein angiography and rod-cone abnormalities on electroretinography[mendelian.co]
Retinal Microaneurysm
  • Microaneurysms Retinal Vascular Tumors Retinal Vasoproliferative Tumor Retinal/Choroidal Coloboma Retinitis Pigmentosa Retinopathy of Prematurity Rhegmatogenous Retinal Detachment Rubella (German Measles) Salzmann's Nodular Degeneration Sarcoidosis Schnyder's[catalyst.library.jhu.edu]
Skin Atrophy
  • We observed the signs of the Hallermann-Streiff syndrome with bird-like face, the presence of natal teeth, and skin atrophy on the nose. After cataract surgery (aspiration with bimanual technique) we prescibed spectacles.[omicsonline.org]
Blister
  • Both forms may be associated with cysts (sack-like blisters) that form a spoke-like pattern in the retina. Retinal detachments can occur, and if detected early, they sometimes can be repaired with surgery.[tsbvi.edu]
Nystagmus
  • Symptoms and clinical features of the condition may include: 1 Clinical Features of Retinal degeneration-nanophthalmos-glaucoma syndrome : Visual impairment Abnormal electroretinogram Myopia Microphthalmia Nystagmus Optic atrophy Abnormality of retinal[familydiagnosis.com]
  • ANTERIOR SEGMENT DYSGENESIS 2; ASGD2 Is also known as aphakia, congenital primary;cpak, cpa; Related symptoms: Autosomal recessive inheritance Nystagmus Abnormal facial shape Cataract Coma SOURCES: ICD10 ICD9 MESH SCTID NCIT GARD DOID UMLS MONDO OMIM[mendelian.co]
  • Related symptoms: Intellectual disability Nystagmus Sensorineural hearing impairment Cataract Visual impairment SOURCES: SCTID ORPHANET More info about RETINITIS PIGMENTOSA Top 5 symptoms//phenotypes associated to Optic atrophy and Glaucoma Symptoms [mendelian.co]
  • Nystagmus can be increased by stress, spinning, and rhythmic movements.[tsbvi.edu]
  • , Acquired Nystagmus, Congenital Occipital Lobe Disorders Ocular Adnexal Lymphoma (OAL) Ocular Hypertension Ocular Ischemic Syndrome Ocular Surface Squamous Neoplasia (OSSN) Ocular Syphilis Open-Angle Glaucomas Ophthalmic Sarcoidosis Optic Disc Coloboma[catalyst.library.jhu.edu]
Tremor
  • […] also known as optic atrophy, x-linked, optic atrophy, non-leber type, with early onset;non-leber type optic atrophy with early-onset; opa2; optic atrophy type 2 Related symptoms: Intellectual disability Peripheral neuropathy Dysarthria Optic atrophy Tremor[mendelian.co]
  • […] disability due to hydroxylysinuria syndrome 3 Cases 281122 Self-healing collodion baby 25 Cases 3156 Senior-Loken syndrome 150 Cases 217622 Sensorineural deafness with dilated cardiomyopathy 2 Families 66633 Sensorineural hearing loss-early graying-essential tremor[azkurs.org]
Neglect
  • […] nanophthalmos and zonular insufficiency, may explain the increased prevalence of angle closure glaucoma in patients with RP. [16] In the present case, as the patient already had poor vision due to RP, the patient paid attention to the headache symptom but neglected[e-tjo.org]
Dysarthria
  • OPTIC ATROPHY 2; OPA2 Is also known as optic atrophy, x-linked, optic atrophy, non-leber type, with early onset;non-leber type optic atrophy with early-onset; opa2; optic atrophy type 2 Related symptoms: Intellectual disability Peripheral neuropathy Dysarthria[mendelian.co]
Abnormal Gait
  • gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability.[mendelian.co]

Treatment

  • Authored by three prominent specialists in the field, this text provides comprehensive coverage of diagnostic and treatment modalities for optimal glaucoma management.[books.google.de]
  • Though the “best” method of treatment still remains somewhat controversial amongst ophthalmologists, many forms of treatment have clear benefit, and treatment should not be delayed.[southwesterneyecare.com.au]
  • Congenital Glaucoma : Primary treatment is surgical and may also require topical medications Adult Onset Glaucoma: Primary treatment : Pharmacologic (Medications:Topical Eye Drops) Laser Treatment (i.e.[mersi.com]
  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • Treatment Treatment Options: Narrow angles with shallow anterior chamber depth should be treated with prophylactic iridotomies. References[disorders.eyes.arizona.edu]

Prognosis

  • PROGNOSIS Those who develop uncontrolled glaucoma and need surgery have poor visual prognosis secondary to common posterior segment intra- and postoperative complications.[entokey.com]
  • Visual prognosis is related to the central corneal involvement. The cornea has a flat curvature.[mendelian.co]
  • The prevention of neovascular glaucoma is extraordinarily important since treatment is difficult and the prognosis is generally poor.[southwesterneyecare.com.au]
  • Prognosis Nanophthalmos has a broad clinical spectrum, determining an also broad spectrum for the patients’ quality of life. Amblyopia can be prevented or minimized if high hyperopia is detected early in life.[eyewiki.aao.org]

Etiology

  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • It is possible to misclassify cases with retinal pigmentary changes secondary to infectious, inflammatory, toxic etiology, or cone dystrophies as RP.[journals.plos.org]

Epidemiology

  • Synthesizes a classical approach to the glaucomas-based on seven earlier editions spanning over 40 years-with the most up-to-date evidence-based and epidemiologically-derived classifications and outcomes.Coherently correlates with authoritative consensus[books.google.de]
  • ......................................................................................... 229 Ocular Imaging ............................................................................................................................. 234 Ophthalmic Epidemiology[slidex.tips]
  • EPIDEMIOLOGY Prevalence • An uncommon condition • Equal prevalence in men and women RISK FACTORS Nanophthalmos is a congenital malformation without risk factor for acquisition.[entokey.com]
  • Epidemiology of primary angle closure glaucoma. Asia Pac J Ophthalmol 1990;2:78-81. 15. Cho HK, Kee C. Population-based glaucoma prevalence studies in Asians. Surv Ophthalmol 2014;59:434-47. 16. MacKay CJ, Shek MS, Carr RE, Yanuzzi LA, Gouras P.[e-tjo.org]
  • Reddy Campus, L V Prasad Eye Institute, Hyderabad, India N Relhan, S Jalali, U Manusani & L Bodduluri Kode Venkatadri Chowdary, David Brown Children’s Eye Care Centre, L V Prasad Eye Institute, Tadigadapa, Vijayawada, India N Pehre Center for Clinical Epidemiology[nature.com]
Sex distribution
Age distribution

Pathophysiology

  • Axenfeld-Rieger syndrome On postulated pathophysiologic mechanisms that have been abandoned, Axenfeld-Rieger syndrome also was known as anterior chamber cleavage syndrome and mesodermal dysgenesis of the cornea and iris.[emedicine.medscape.com]
  • PATHOPHYSIOLOGY • It may result from an arrest in ocular development after closure of the embryonic fissure. • A smaller than normal optic vesicle growing from the forebrain may be the cause of the reduced size of the eye, and scleral thickening could[entokey.com]
  • […] retinal dystrophy has also been reported as a new syndrome. 3 Here we reported a simultaneous occurrence of of RP associated with (out) chronic angle-closure glaucoma in two children from the same Chinese family, which may give clues to understanding the pathophysiology[124.205.33.103]
  • Uyama M, Takahashi K, Kozaki J, et al: Uveal effusion syndrome: clinical features, surgical treatment, histologic examination of the sclera, and pathophysiology. Ophthalmology 2000; 107:441. 58.[doctorlib.info]
  • Pathophysiology The MFRP protein is selectively expressed in the retinal pigment epithelium (RPE) and the ciliary body, with low expression in the brain.[eyewiki.aao.org]

Prevention

  • And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • If glaucoma is diagnosed, there are a number of surgical procedures that the ophthalmologist may recommend to help reduce IOP and prevent damage to the child’s vision.[2020aec.com]
  • It is the leading cause of preventable blindness worldwide.[tsbvi.edu]
  • Angle closure related IOP elevation is preventable by timely intervention to widen the drainage angle in susceptible eyes [10].[journals.plos.org]
  • The research was supported by the National Institutes of Health, a Wasserman award from Research to Prevent Blindness, the Knights Templar Eye Foundation, the Wilmer Eye Institute, and the Portuguese Foundation for Science and Technology.[newswise.com]

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