Presentation
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]
Patients receiving treatment with botulinum toxin should be explained about the possible development of mydriasis, which may be present for several weeks. [e-tjo.org]
Entire Body System
- Disability
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]
hypogenitalism syndrome 2 Families 436245 Retinitis pigmentosa-juvenile cataract-short stature- intellectual disability syndrome 3 Cases 790 Retinoblastoma 6.0 BP 790 Retinoblastoma 0.05 I * 3087 Retinohepatoendocrinologic syndrome 7 Cases 778 Rett [azkurs.org]
WAGR Syndrome May 15, 2018 by Peter Ciszewski WAGR syndrome is a rare genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or intellectual disability. [checkrare.com]
- Asymptomatic
Unfortunately, glaucoma is usually a disease in which the patient is entirely asymptomatic (without symptoms) until late in the disease. [southwesterneyecare.com.au]
Whether subjects with RP are also prone to having asymptomatic angle closure glaucoma needs further evaluation. Lastly, we excluded RP patients under age of 20 years based on the regulation of Institutional Review Board. [journals.plos.org]
Alternatively, choroidal detachment also occurs spontaneously in asymptomatic nanophthalmic eyes during the third to fifth decades of life. [5] The pathophysiology of choroidal effusion involves increased transudation of fluid and protein molecules from [doctorlib.info]
- Fever
Retinohepatoendocrinologic syndrome 7 Cases 778 Rett syndrome 10.0 P * 778 Rett syndrome 5.0 BP * 294049 Reunion Island Larsen syndrome 30 Cases 3088 Revesz syndrome 4 Cases 244310 RFT1-CDG 8 Cases 69077 Rhabdoid tumor 500 Cases 780 Rhabdomyosarcoma 0.59 I * 3099 Rheumatic fever [azkurs.org]
Eyes
- Strabismus
Strabismus-Like Double Vision Tear Duct Disorders Uveal Diseases Uveitic Glaucoma Uveitis Vision Disorders Vision Impairment Visual Field Defects Visual Pathway and Hypothalamic Glioma Visual Seizure Vitreoretinal Degeneration Vitreoretinochoroidopathy [sehat.com]
Monofixation Syndrome Nearsightedness Ocular Cicatricial Pemphigoid Ocular Histoplasmosis Syndrome Ocular Hypertension Ocular Myasthenia Gravis Ophthalmoplegia Optic Nerve Disorder Optic Neuropathy Pediatric Strabismus Poor Color Vision Presbyopia Primary [healthgrades.com]
Related symptoms: Strabismus Microphthalmia Glaucoma Abnormality of retinal pigmentation High hypermetropia SOURCES: ORPHANET ICD10 More info about NANOPHTHALMIA Medium match COATS DISEASE Coats disease (CD) is an idiopathic disorder characterized by [mendelian.co]
245 Orbital, Oculoplastic, and Lacrimal Diseases .................................................................................. 246 Pediatric Ophthalmology and Strabismus [slidex.tips]
It can be associated with refractive error, cataracts, nystagmus, strabismus, and glaucoma (later in life). [tsbvi.edu]
- Esotropia
Comitant Esotropia: Incomitant Esotropia: Infantile Exodeviations Comitant Exodeviations Incomitant Exposure Keratopathy Eyelid Laceration Eyelid Neoplasms, Benign Eyelid Neoplasms, Malignant Fabry's Disease Familial Exudative Vitreoretinopathy Fetal [catalyst.library.jhu.edu]
Chemical Burn - Eyes Chronic Eye Diseases Color Blindness Convergence Insufficiency Cornea Guttata With Anterior Polar Cataract Corneal Dystrophy Corneal Flash Burns Corneal Scar Diabetes-Like Blepharitis Diabetes-Like Retinal Edema Dry Eyes Esophoria Esotropia [healthgrades.com]
The clinical features suggesting nanophthalmos in these patients were the deep set eyes with small palpebral fissures, microcornea, very high hypermetropia associated with esotropia (cases 1, 2, 3, and 5), narrow anterior chambers and short axial length [bjo.bmj.com]
Additional clinical findings may include nystagmus and strabismus, usually non-accommodative esotropia [31]. [eyewiki.aao.org]
[…] recessive inheritance Total cataract Strabismus Short stature Brachydactyly Joint stiffness Peripheral neuropathy Microspherophakia Visual impairment Exotropia Posterior lenticonus Lenticonus Choroideremia Polar cataract Subcapsular cataract Mania Amblyopia Esotropia [mendelian.co]
- Small Palpebral Fissures
Discussion Nanophthalmic eyes are typically deep set, associated with narrow palpebral fissures, 3 7 17 and are markedly hypermetropic 2 4 6-8 10 with axial lengths less than 20 mm. 9 They have thickened sclera, small corneal diameters, 17 and general [bjo.bmj.com]
Blepharophimosis is characterized by small palpebral fissures, but normal size of the globe [25]. [egms.de]
- Arcus Senilis
Syndrome Albinism Allergic Conjunctivitis Alport Syndrome Amaurosis Fugax Amblyopia AMD-Dry AMPPE (Acute Multifocal Placoid Pigment Epitheliopathy) Angioid Streaks Anisocoria in Children Anisometropia Anophthalmia Anterior Basement Membrane Dystrophy Arcus [catalyst.library.jhu.edu]
Musculoskeletal
- Myopathy
OPTIC ATROPHY 1; OPA1 Is also known as optic atrophy, juvenile, kjer-type optic atrophy, optic atrophy, kjer type;oak Related symptoms: Autosomal dominant inheritance Ataxia Strabismus Milia Myopathy SOURCES: OMIM ORPHANET More info about OPTIC ATROPHY [mendelian.co]
- Fracture
Orbital Floor Fractures, Orbital Medial Wall Fractures, White-Eyed Blowout Fuchs' Corneal Dystrophy Fuch's Heterochromic Iridocyclitis Giant Cell Arteritis Goldenhar Syndrome Granulomatous Uveitis Guillain-Barre Syndrome and Fisher Syndrome Variant [catalyst.library.jhu.edu]
Photophobia Fracturing of light (like looking through broken glass) Increased glare Blurred vision Reduced acuity Blindness May need to use sunglasses, visors, or hats outdoors and indoors as well Reduced or diffused lighting Sunglasses, visors or hats [tsbvi.edu]
Neurologic
- Hyperactivity
[…] coloboma Insidious onset Cleft upper lip Dysdiadochokinesis Hypoplasia of the iris Sclerocornea Lens subluxation Tremor X-linked inheritance Progressive visual loss Abnormality of mitochondrial metabolism Hypoplasia of the fovea Absent Achilles reflex Hyperactive [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]
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]