Symptoma

Myopia Type 23

Autosomal Recessive Myopia

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]

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]

Pigment clumps in the form of bone spicules in a paravenous distribution appear as young as 1 year of age and may be present congenitally. [disorders.eyes.arizona.edu]

  • Physician

    Questions physicians should ask patients to detect benign joint hypermobility syndrome. (Reproduced with permission from Hakim AJ, Cherkas LF, Grahame R, Spector TD, MacGregor AJ. [jaoa.org]

    American Family Physician. 8. Suicide Gene Therapy. NCBI. 9. Childhood Eye Cancer Trust. 10. Facts About Usher Syndrome. NIH, National Eye Institute. 11. Usher Syndrome. NORD. 12. Foundation Fighting Blindness. NORD. 13. Rare Diseases. [blog.trialrunners.com]

    However, it was not until 1854 that British physician John Nottingham (1801–1856) clearly described keratoconus and distinguished it from other ectasias of the cornea. [12] Nottingham reported the cases of "conical cornea" that had come to his attention [en.wikipedia.org]

  • Crying

    However, occasionally, a deep orbital tumour gives rise to proptosis (exacerbated by crying) in the absence of discolouration. CT may be required to diagnose these lesions. [patient.info]

    The note says: “When I read this for the first time, I would have needed dark glasses to cover my eyes that were red from crying… after the fourth reading, I had to get straight to the bookshop and buy my own copy, otherwise I would never have had the [kaisuviikari.com]

  • Rigor

    He speculated that… early man was subject to the most rigorous selection for distant vision acuity. .. defective vision would have led to speedy death .. throughout the long dawn of man’s cultural beginnings a slowly growing proportion of individuals [penn.museum]

  • Visual Impairment

    The visually impaired child. Pediatr Clin North Am 2003 ; 50 : 225 –39 Korff CM, Apkarian P, Bour LJ, et al. Isolated absence of optic chiasm revealed by congenital nystagmus, MRI and VEPs. [ajnr.org]

    The classic feature is optic nerve dysfunction and visual impairment out of proportion with the degree of proptosis. Some patients are observed (some tumours have an indolent course) but most require surgical excision radiotherapy. [patient.info]

    Repeated and prolonged infection causes permanent visual impairment and blindness. Trachoma is spread through direct contact with secretions from the eyes, eyelids, or nose of an infected person. [tsbvi.edu]

    Corneal transplantation offers good results and can be used, if necessary, but it should be considered a last resort for those patients who are contact lens intolerant, who are significantly visually impaired, and who cannot wait for future technological [emedicine.medscape.com]

  • Ectopia Lentis

    Vision problems are common in isolated ectopia lentis. [ghr.nlm.nih.gov]

    Lentis (see story below, and other posts about Ectopia Lentis ) …and many, many more. [littlefoureyes.com]

    There was no ectopia lentis or cardiac or pulmonary involvement. [annalsofian.org]

    • Fibrillin is a glycoprotein that is a major component in elastic tissue and is important in lens zonules. 50-80 percent of patients with Marfan’s syndrome have ectopia lentis. 29. [slideshare.net]

  • Progressive Loss of Vision

    loss of vision and reduction of visual fields, usually from the periphery inward. [tsbvi.edu]

  • Neglect

    Degenerative myopia deserves our recognition as one of the truly neglected areas of ophthalmology. [mvrf.org]

    Corneal diameter is often a neglected parameter in the current environment of readily available empirical designs. [clspectrum.com]

  • Frontal Headache

    CASE REPORT: A 22 years-old female who attended an ophthalmological examination due to severe frontal headaches accompanied by halos and loss of sharpness in her sight. [ncbi.nlm.nih.gov]

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]

Research leads to new treatments, or in some cases even a cure, and most importantly hope. “With research, possibilities are limitless!” Graphic from the Mesothelioma Cancer Alliance, . [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]

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]

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]

[…] image below), also known as Sands of the Sahara syndrome, represents a sterile inflammation occurring in the flap interface. [36] Maddox first described this complication, and Hatsis subsequently classified it into 4 grades based on severity. [37] The etiology [emedicine.medscape.com]

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]

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]

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]