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]
Hematological
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Hemophilia A
Some other common XLR diseases are hemophilia A, hemophilia B, fragile X syndrome, non-specific X-chromosomal mental retardation (MRXS3) and X-linked Bruton agammaglobulinemia (BTK). [dorak.info]
Due To Glucose Phosphate Isomerase Deficiency 1 Hemophagocytic Lymphohistiocytosis, Familial, 2 2 Hemophagocytic Lymphohistiocytosis, Familial, 3 2 Hemophagocytic Lymphohistiocytosis, Familial, 4 2 Hemophagocytic lymphohistiocytosis, Familial, 5 2 Hemophilia [preventiongenetics.com]
Entire Body System
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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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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]
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Colorblindness
DEUTAN Green colorblindness X-linked OPN1MW #303800 COLORBLINDNESS, PROTAN Red colorblindness X-linked OPN1LW #303900 COLORBLINDNESS, TRITANOPIC Abnormal blue and yellow vision AD OPN1SW #190900 CONE-ROD DYSTROPHY Dyschromatopsia, photophobia, nystagmus [eyewiki.aao.org]
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Small Eyes
eyes Migraine Normal Mongolian Fold No fold in eyes Nearsightedness Normal vision Rh factor ( ) No factor (Rh -) Second toe longest First or big toe longest Short stature Tall stature Six fingers Five fingers normal Webbed fingers Normal fingers Tone [sciencebrainwaves.com]
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]
[…] nystagmus, photophobia, strabismus, macular hypoplasia AR CHS1 #214500 CHERUBISM Proptosis, globe displacement, lower eyelid retraction, optic neuropathy, striae of macula, marcus-gunn pupil AD SH3BP2 #118400 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY [eyewiki.aao.org]
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]
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]