Presentation
Presentation : these variably present from early childhood (especially lymphangiomas) to adulthood. Varices present with intermittent proptosis (evident in the Valsalva manoeuvre) ± visible lesions in the eyelid. [patient.info]
The disease often presents itself differently in each patient and is commonly difficult to diagnose for this reason. Rheumatologists can diagnose the disease in patients who have presented with similar symptoms for many months. [rebuildyourvision.com]
Ocular manifestations : patients usually present with marked decrease in vision. [ijem.in]
Each patient presented with congenital nystagmus and was diagnosed with isolated absence of the optic chiasm on the basis of neuroimaging. [ajnr.org]
Very long chain acyl-co enzyme A deficiency presents clinicopathologically similar to CPT II deficiency. [annalsofian.org]
Entire Body System
- Disability
Mutations of COL9A3 have recently been reported in three brothers in an intermarried Moroccan family with features of Stickler syndrome and intellectual disability. [rarediseases.org]
More specifically, he noted that his symptoms were exacerbated by bright light, which caused photophobia and disabling glare. He described a halo-like effect that combined with the photophobia and began to significantly affect his daily activities. [healio.com]
On the flip side, I care for children with variable developmental disabilities who have not learned the alphabet, even at age 10. [reviewofoptometry.com]
Myelination of the macula associated with disabling photophobia. Archives of ophthalmology. 2003;121(8):1204–5. Available at: http://www.ncbi.nlm.nih.gov/pubmed/12912705. Accessed June 18, 2013. [eyewiki.aao.org]
It appears, however, that in everyday practice, this advice was not being implemented successfully, despite of cycloplegia (disabling of accommodation). [kaisuviikari.com]
- Collapse
Mitral valve prolapse occurs when one or both of the flaps (cusps) of the mitral valve bulge or collapse backward (prolapse) into the left upper chamber (atrium) of the heart. [rarediseases.org]
Cardiovascular
- Mitral Valve Prolapse
Mitral valve prolapse occurs when one or both of the flaps (cusps) of the mitral valve bulge or collapse backward (prolapse) into the left upper chamber (atrium) of the heart. [rarediseases.org]
Eyes
- Strabismus
A case of myopic strabismus fixus “Fixed” with loop myopexy. [kjophthal.com]
Any deviation (unless alternating), even a micro-strabismus, will cause amblyopia. A child with strabismus literally turns off an eye at the level of the visual cortex. Uncertain? Follow Up! When things don’t add up, you have two options. [reviewofoptometry.com]
For those who do not recover there are prisms (57) or strabismus surgery. [neuroophthalmology.ca]
It can be associated with refractive error, cataracts, nystagmus, strabismus, and glaucoma (later in life). [tsbvi.edu]
The presence of strabismus or nystagmus in a child at birth with multiple congenital abnormalities should alert an ophthalmologist to seek the opinion of an endocrinologist. [ijem.in]
- Esotropia
DIFFERENTIAL DIAGNOSIS OF ESOTROPIA Not all esotropias are VI nerve palsies. Both comitant and non-comitant esotropia have many etiologies. [neuroophthalmology.ca]
Myopic strabismus fixus can present in either of the two forms, namely, esotropia-hypotropia complex or exotropia-hypotropia complex. [kjophthal.com]
Our work together continues in the treatment of her esotropia; the eyes look straighter, but the battle for stereopsis persists. [vision-therapy-pa.com]
In one family the retinal changes were associated with hyperopia, esotropia and vitreous degeneration (cells and liquefaction). [disorders.eyes.arizona.edu]
If, however, that same child has a micro-esotropia, I would definitely prescribe. How to prescribe when other factors exist is a full article in itself and will not be discussed here. [reviewofoptometry.com]
- Prolapse
Mitral valve prolapse occurs when one or both of the flaps (cusps) of the mitral valve bulge or collapse backward (prolapse) into the left upper chamber (atrium) of the heart. [rarediseases.org]
Third stage or ptosis adiposa present with medial fat pad atrophy, orbital fat prolapsed, and lacrimal gland prolapse. [ijem.in]
[…] pectus excavatum or chest asymmetry, plain flat foot, pneumothorax, dural ectasia, protrusio acetabulae, increased armspan to height, scoliosis or thoraco lumbar kyphosis, reduced elbow extension, facial features, skin striae, myopia and mitral valve prolapse [annalsofian.org]
Fallot (5 patients), pulmonary atresia (1 patient), peripheral pulmonary artery stenosis (1 patient), missing pulmonary artery (1 patient), aortic coarctation (4 patients), bicuspid aortic valve (1 patient), interrupted aortic arch (1 patient), mitral prolapse [ojrd.biomedcentral.com]
Neurologic
- Confusion
(Note: Readers should not be confused by the similarity of these two names. “Beighton” is the correct spelling of the name of the score, and “Brighton,” the correct spelling of the name of the criteria.) [jaoa.org]
If you suffer from an autoimmune disorder, then you might be a little confused about the inner workings of your disease. Not only are autoimmune diseases significant to your overall health, but they also can be extremely confusing. [rebuildyourvision.com]
The beaded vitreous pattern seen in Stickler syndrome type II ( 604841 ), with which Marshall syndrome is sometimes confused, is not seen in Marshall syndrome, nor is the same frequency of retinal detachments. [disorders.eyes.arizona.edu]
It may be accessed at any time to avoid misunderstanding and confusion. A BRIEF REVIEW OF THE TYPES OF MYOPIA Myopia can be divided into three distinct categories, refractive myopia, neural myopia and pathological myopia. [neuronresearch.net]
When these truths started becoming clear to us, Sauli said that I had avoided being confused by too much information! Quite right, by cutting through to the essentials, it was possible for me to isolate the most important elements. [kaisuviikari.com]
Treatment
Treatment Treatment Options: No effective treatment is available although low vision aids are likely to be helpful in selected patients. [disorders.eyes.arizona.edu]
The basic buckling surgical procedure has now been modified for the optimal treatment of this new indication– myopic macular schisis. [mvrf.org]
Fortunately, significant epithelial ingrowth requiring treatment is rare. [emedicine.medscape.com]
And as a librarian, the theme of research leading to new treatments really speaks to me. If you have a child with a rare disease, please share your story and help us raise awareness. [littlefoureyes.com]
Partial Jensen's procedure for the treatment of myopic strabismus fi xus. J AAPOS 2004;8:393-5. 7. Wong I, Leo SW, Khoo BK. Loop myopexy for treatment of myopic strabismus fi xus. J AAPOS 2005;9:589-91. 8. Shenoy BH, Sachdeva V, Kekunnaya R. [kjophthal.com]
Prognosis
There may be some benefit in those with tumor-related (58) or traumatic VI nerve palsies (51, 59) (60), which do not have as good a natural prognosis. [neuroophthalmology.ca]
These scotomas are smaller than the size of the MRNF patch would suggest. [4] [18] Visual acuity and prognosis depends on the severity of ocular complications or associated syndromes (Table 1). [eyewiki.aao.org]
• Pathologic myopia • Highly myopic refractive error is present from early childhood and is progressive. prognosis is poor with legal blindness 19. • Other Myopias • Night Myopia • The phenomenon of increased myopia under low luminance conditions was [slideshare.net]
Prognosis There are few data about survival of the patients affected by MWS. We are aware of the death of three patients. [ojrd.biomedcentral.com]
[…] keratoconus and other corneal thinning conditions as removal of corneal stromal tissue will further damage an already thin and weak cornea. [61] For similar reasons, radial keratotomy has also generally not been used for people with keratoconus. [62] [63] Prognosis [en.wikipedia.org]
Etiology
Many older ophthalmologists adhered to the hypothesis that excessive close or abnormal use of the eyes was the cause of myopic visual changes, but some early workers, in particular Steiger (1913), supported a genetic etiology. [questia.com]
Reported cases in the literature of angle closure in the setting of high myopia (excluding those due to inflammation or contracting membranes) include a number of possible etiologies such as primary pupillary block, plateau iris, malignant glaucoma after [glaucomatoday.com]
Certainly some diagnoses to be considered when looking at corneal haze include anterior basement membrane dystrophy, Fuchs’ endothelial dystrophy, posterior polymorphous membranous dystrophy, as well as a variety of infectious etiologies. [healio.com]
Both comitant and non-comitant esotropia have many etiologies. [neuroophthalmology.ca]
• The site of elongation may have implications for determining the etiology. [slideshare.net]
Epidemiology
The genetic epidemiology of joint hypermobility: A population study of female twins. Arthritis Rheum. 2004;50:2640–2644.) Figure 1. Questions physicians should ask patients to detect benign joint hypermobility syndrome. [jaoa.org]
Of course, any good Primal thinker knows that epidemiology, like Grok logic, only goes so far. It’s certainly interesting, and it can inspire new avenues of inquiry, but science cannot live on epidemiology alone. [marksdailyapple.com]
Golabi-Ito-Hall type X-linked intellectual deficit, Porteous type X-linked intellectual deficit, Sutherland-Haan type Synonym(s): (no synonyms) Classification (Orphanet): - Rare eye disease - Rare genetic disease Classification (ICD10): (no data available) Epidemiological [csbg.cnb.csic.es]
Relevant External Links for LRPAP1 Genetic Association Database (GAD) LRPAP1 Human Genome Epidemiology (HuGE) Navigator LRPAP1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: LRPAP1 No data available for Genatlas for LRPAP1 Gene Analysis [genecards.org]
But Dolgin reports that there’s a way to protect your eyes from the condition: Based on epidemiological studies, Ian Morgan, a myopia researcher at the Australian National University in Canberra, estimates that children need to spend around three hours [smithsonianmag.com]
Pathophysiology
The pathophysiologic basis for decussation of retinal axons is an area of active research. Pathfinding of retinal axons at the optic chiasm is incompletely understood at this time. [ajnr.org]
Decreased vision - visual acuity may be impaired by: Direct optic nerve involvement due to the pathophysiology. Distortion of the macula by a lesion pushing in behind the globe. Exposure keratopathy (see above) can also affect the visual acuity. [patient.info]
The pathophysiology of isolated high myopia remains unknown. Besides heredity, the trait depends on environmental factors and, moreover, the genetic component is also complex. [jmg.bmj.com]
These genes include BANP-ZNF469, COL4A4, FOXO1, FNDC3B, IMMP2L and RXRA-COL5A1. [11] Others likely also exist. [11] Pathophysiology [ edit ] A specimen of keratoconic cornea taken out six years after diagnosis: thin stroma, wrinkled posterior surface [en.wikipedia.org]
Prevention
Currently the use of beta blocker medications has delayed but not prevented the need to eventually perform aortic surgery. [genome.gov]
Buckling adult eyes can stabilize axial length and minimize future macular degeneration, but it cannot prevent the continuation of degenerative processes, which are already at work. [mvrf.org]
Efforts to reduce the incidence of diffuse lamellar keratitis focus on prevention, and they are updated on a continual basis. [emedicine.medscape.com]
When we talk about preventing myopia, we must first of all stress that this means controlling pseudomyopia to prevent if from growing stronger, in time also leading to an irreversible increase in the axial length of the eyeball and actual myopia. [kaisuviikari.com]
It is the leading cause of preventable blindness worldwide. [tsbvi.edu]