Presentation
In addition to As with the first edition, our goal is to present a updating and revising the entire book, we have added comprehensive textbook of pediatric ophthalmology three new chapters: Chapter 7 on electrophysiology and strabismus written in a clear [books.google.com]
Inheritance - congenital achromatopsia is transmitted in an autosomal-recessive trait Presentation - patients present in early childhood with nystagmus, abnormal visual behaviour or photophobia. Acuity is less than 20/200. [patient.info]
Patients present with varying degrees of hyperelastic skin, joint hypermobility, and tissue fragility (including that of vasculature). [amboss.com]
A number of other conditions and syndromes may present with infantile glaucoma, along with other ocular and/or systemic findings. [centogene.com]
There is a high relative prevalence of giant retinal tears and bilateral retinal detachment, total retinal detachment, macula-off retinal detachment, and proliferative vitreoretinopathy, which can commonly present on initial presentation ( 43 ). [entokey.com]
Entire Body System
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Surgical Procedure
Surgical procedures to correct it include radial keratotomy, photorefractive keratectomy, and lasik. Refraction and correction in myopia. [medical-dictionary.thefreedictionary.com]
The most common surgical procedure performed to correct myopia is laser in situ keratomileusis (LASIK). [encyclopedia.com]
The surgical procedures that have been performed include vitrectomy with gas tamponade and macular buckling. 63. • Postsurgical developments in a myopic macular hole with associated retinal detachment. [slideshare.net]
A myringotomy, a surgical procedure in which a small incision is made in the eardrum and small tubes are inserted, may be used to treat glue ear. [rarediseases.org]
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Inflammation
Spaide, MD has made many discoveries in the field of vitreoretinal diseases including myopia, macular degeneration, and intraocular inflammation. He has spearheaded development of multiple forms of retinal imaging. [books.google.com]
Joint pain and stiffness upon rest are frequent findings, and many individuals develop inflammation of the joints during the third or fourth decade of life (early-onset osteoarthritis). [rarediseases.org]
Inflammation of the eye, increased dryness of the eye, and cataracts are some of the risks associated with refractive surgery. [encyclopedia.com]
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Fatigue
[…] this excess growth In younger children, myopia progresses more quickly because their eyes are growing at a faster rate, leading to higher levels of myopia, stronger glasses and more eye health risks Adult onset myopia usually occurs as an adaptation to fatigued [mykidsvision.org]
However, in other cases, mitral valve prolapse can result in chest pain, abnormal heart rhythms (arrhythmias), fatigue, and dizziness. [rarediseases.org]
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Short Finger
Weill–Marchesani syndrome short stature; an unusually short, broad head (brachycephaly) facial abnormalities; hand defects, including unusually short fingers (brachydactyly); distinctive eye abnormalities. [slideshare.net]
Ears
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Hearing Impairment
impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000407 9 glossoptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000162 10 brachydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001156 11 midface retrusion 60 33 frequent (33%) Frequent (79-30% [malacards.org]
Eyes
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Strabismus
reader-friendly style. and the eye, Chapter 1 7 on strabismus surgery, and Our hope is that the readerwill find the second edi Chapter 56 on congenital syndromes with ocular man tion of Pediatric Ophthalmology and Strabismus to ifestations. [books.google.com]
10 M NA 18 63 4.25 3.25 180, 2.75 1.50 175 11 F NA UA 61 1.00 0.50 10, Plano 12 M NA UA 65 5.25 0.50 130, 3.75 0.50 40 13 F A 2 36 16.00 1.00 140, 15.00 sph (pre-op) Amblyopia, strabismus 14 M NA UA 70 Plano OU 16 M A 4 71 14.75 2.00 150, 13.00 sph Retinal [iovs.arvojournals.org]
hypertelorism, optic atrophy AD FGFR2 #123500 CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (CROUZONODERMOSKELETAL SYNDROME) Shallow orbits, proptosis, strabismus, hypertelorism, optic atrophy AD FGFR3 #612247 CUTIS LAXA, DEBRE TYPE Strabismus, myopia, [eyewiki.aao.org]
DISCUSSION: Duane's syndrome is a congenital and non-progressive strabismus syndrome. [jemds.com]
Inheritance Autosomal recessive Gene Map Locus Congenital stationary night blindness (CSNB) is a group of non-progressive retinal disorders characterized by an abnormal dark-adaptation curve, poor visual acuity, nystagmus, myopia (ranging from low to high), strabismus [cags.org.ae]
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Lacrimation
[…] pronounced convex arched eyebrows AD (50% de novo) FOXL2 #110100 BLUE-CONE MONOCHROMACY Blue cone type colorblindness, photophobia, nystagmus, myopia, macular pigment epithelial changes XLR OPN1LW, OPN1MW #303700 BRANCHIOOTORENAL SYNDROME Eyes absent, lacrimal [eyewiki.aao.org]
Thoracic 4 4 Aortic Aneurysm, Familial Thoracic 6 4 Aortic Aneurysm, Familial Thoracic 7 4 Aortic Aneurysm, Familial Thoracic 8 3 Aortic Aneurysm, Familial Thoracic 9 2 Aortic Valve Disorder 1 Apert Syndrome 6 Aphakia, Congenital Primary 3 Aplasia Of Lacrimal [preventiongenetics.com]
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Excessive Tearing
tearing AR TAT #276600 USHER SYNDROME retinitis pigmentosa, cataracts AR 11 genes, majority of cases due to MYO7A, USH2A Multiple DISORDER EYE FINDING MODE OF INHERITANCE KNOWN GENES OR CHROMOSOMAL ABNORMALITY INVOLVED MIM SYMBOL & NUMBER REFERENCE VACTERL [eyewiki.aao.org]
Musculoskeletal
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Brachydactyly
[…] frequent (99-80%) HP:0002781 7 frontal bossing 60 33 frequent (33%) Frequent (79-30%) HP:0002007 8 sensorineural hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000407 9 glossoptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000162 10 brachydactyly [malacards.org]
Type A1 2 Brachydactyly Type A2 3 Brachydactyly Type C 3 Brachydactyly, type A1, C 1 Brachydactyly, Type B1 2 Brachydactyly, Type B2 3 Brachydactyly, Type D 1 Brachydactyly, Type E1 1 Brachydactyly, Type E2 1 Brachyolmia 4 with Mild Epiphyseal and Metaphyseal [preventiongenetics.com]
Weill–Marchesani syndrome short stature; an unusually short, broad head (brachycephaly) facial abnormalities; hand defects, including unusually short fingers (brachydactyly); distinctive eye abnormalities. [slideshare.net]
Only a few non-glycine missense mutations have been reported and among these, the arginine to cysteine substitutions predominate and these mutations cause some unusual disorders which may be described as Stickler-like but have short stature and brachydactyly [rarediseases.org]
Autosomal dominant (AD) diseases : Brachydactyly (the first Mendelian trait identified in humans), Huntington disease, familial hypercholesterolemia, familial polycystic disease, one type of Alzheimer disease, neurofibromatosis type 1 and achondroplasia [dorak.info]
Skin
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Macula
He is a world renowned retinal specialist who has published more than 300 scientific papers and 11 textbooks, with particular interest in diseases of the macula, such as diabetic retinopathy and age–related macular degeneration. [books.google.com]
The macula of the retina (the area with the highest visual resolution) can develop tiny cysts or develop a hole as well. Sometimes hemorrhages occur in the macula which leads to an acute loss of clear vision. [disorders.eyes.arizona.edu]
The macula has a high density of cones, ganglion cells, and pigment within bipolar and ganglion cells. The central 1.5 mm area of the macula is the fovea. [patient.info]
Myopic macula chorioretinal degeneration with lacquer crack across the fovea. 61. Lacquer cracks near the macula 62. [slideshare.net]
Insight into high myopia and the macula Vitreo-Retina and Uveitis Service, Dr. [ijo.in]
Face, Head & Neck
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Frontal Bossing
bossing 60 33 frequent (33%) Frequent (79-30%) HP:0002007 8 sensorineural hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000407 9 glossoptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000162 10 brachydactyly 60 33 frequent (33%) Frequent [malacards.org]
Figure 11: Father with Ehlers-Danlos syndrome: macrocephaly, hypertelorism, long face, prominent frontal bossing, thick eyebrows, prominent nasal root and tip, micrognathia, sloping shoulders. [omicsonline.org]
Neurologic
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Headache
Its symptoms are headaches caused by eye strain and blurry vision when looking at distant objects. Genetic and environmental factors both influence the development of nearsightedness. [wespeakscience.com]
Sometimes people with undiagnosed myopia have headaches and eyestrain from struggling to clearly see things in the distance. [nei.nih.gov]
Headaches may accompany eyestrain. Diagnosis The diagnosis of myopia is typically made during the first several years of elementary school when a teacher notices a child having difficulty seeing the chalkboard, reading, or concentrating. [encyclopedia.com]
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Headache
Its symptoms are headaches caused by eye strain and blurry vision when looking at distant objects. Genetic and environmental factors both influence the development of nearsightedness. [wespeakscience.com]
Sometimes people with undiagnosed myopia have headaches and eyestrain from struggling to clearly see things in the distance. [nei.nih.gov]
Headaches may accompany eyestrain. Diagnosis The diagnosis of myopia is typically made during the first several years of elementary school when a teacher notices a child having difficulty seeing the chalkboard, reading, or concentrating. [encyclopedia.com]
Treatment
There are no proven treatments that halt the progressive enlargement of the eyeball and the only treatment of myopia known to correct vision is with the use of proper corrective lenses. [disorders.eyes.arizona.edu]
Duration of treatment. According to Prof. [aao.org]
How long have you searched for a myopia treatment and why? Francke: Our task group has worked on this new treatment for progressive myopia since 2009. [medica-tradefair.com]
Currently, there is no definitive treatment modality available for Diffuse Choroidal Atrophy Symptomatic treatment to address the signs and symptoms may be employed by the healthcare provider Rehabilitation, vocational, or occupational therapy may be [dovemed.com]
Features of macroaneurysms include: a. more common in women than men b. more common in the temporal arcade than the nasal arcade c. retinal artery occlusion d. occurs in IRVAN syndrome e. progressive enlargement and therefore early treatment with treatment [mrcophth.com]
Prognosis
Diagnosis and Prognosis: The diagnosis of myopia is made by an eye professional. [disorders.eyes.arizona.edu]
Prognosis - there is no progression. [patient.info]
(Outcomes/Resolutions) The prognosis of Diffuse Choroidal Atrophy is poor and the condition invariably leads to complete vision loss. [dovemed.com]
Treatment Prognosis References: [10] [13] [14] [15] [3] [#8376} [amboss.com]
[…] retinopathy caused by shaken baby syndrome: a. the patient is usually between the age of 3 and 5 years of age b. the retinopathy may resemble central retinal vein occlusion c. neurological damage is common d. skull fracture is always present e. the visual prognosis [mrcophth.com]
Etiology
Etiology Marfan syndrome Mutation of fibrillin-1 gene (FBN1) on chromosome 15 defective connective tissue microfibrils defective elastin Autosomal dominant inheritance pattern with variable penetrance Ehlers-Danlos syndrome Various mutations in genes [amboss.com]
Because most cases of myopia have a benign etiology and course, the importance of this disorder as a predisposing factor for serious retinal pathology is often overlooked. [link.springer.com]
(Etiology) Diffuse Choroidal Atrophy is a congenital disorder that is inherited in an autosomal dominant manner It is classified as a type of choroidal dystrophy and affects both the choroid and retinal pigment epithelium (RPE) The gene causing the condition [dovemed.com]
In fact, the etiology of myopia involves a multitude of factors although heredity definitely plays a role. It also occurs as a result of environmentally induced conditions. [pointsdevue.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]
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]
Most epidemiological studies have estimated children's time outdoors from questionnaires — but Christine Wildsoet, an optometrist at the University of California, Berkeley, says that such data should be treated with caution. [nature.com]
See also Introduction to Genetic Epidemiology. [dorak.info]
Recent study showed Chinese prevalence rates for low, moderate, and high myopia that were similar to those reported in North America and South India, were higher than those in epidemiological studies in Australia, and they were lower than those in Singaporean [pointsdevue.com]
Pathophysiology
At the other side the genetic factors include the hypothetical list with candidate genes though to be responsible for the developments of nearsightedness, based on the pathophysiology of myopia syndrome (nature vs. nurture). [wespeakscience.com]
The identification of this gene may provide insight into the pathophysiology of myopia and eye development.” Here is what I want to show you. [endmyopia.org]
Ongoing genetic research continues to change the understanding of pathophysiology. Stargardt's disease and fundus flavimaculatus [ 3 ] There has been some question as to whether this condition is two diseases or one. [patient.info]
[…] development of HM. [22], [23] Twin studies report high heritability values of up to 90%. [24] Currently, the most studied environmental parameter thought to be protective against development of myopia is time spent by children outdoors. [25], [26], [27] Pathophysiology [ijo.in]
Prevention
TREATMENT Prevention of Myopia in Otherwise Healthy Infants and Children Over the years, several rationales for the possibility of prevention of myopia have been proposed. [entokey.com]
Primary prevention includes genetic counseling, while tertiary prevention involves regular monitoring for complications. [amboss.com]
To help prevent myopia, Klaver said, parents should have children play outside for 15 hours a week, and limit “near work” to no longer than 45 continuous minutes. [reuters.com]
Meanwhile, researchers have been working on ways to prevent myopia from worsening. [nature.com]