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*  Fryns syndrome - Wikipedia
Pierson DM, Taboada E, Butler MG (March 2004). "Eye abnormalities in Fryns syndrome". Am. J. Med. Genet. A. 125A (3): 273-7. ... 2004) reviewed 77 reported patients with Fryns syndrome and summarized the abnormal eye findings identified in 12 of them. They ... Two affected fetuses in 1 family showed severe craniofacial abnormalities with bilateral cleft lip and palate and ... These authors listed corneal clouding, camptodactyly with hypoplastic nails, and abnormalities of the diaphragm as cardinal ...
  https://en.wikipedia.org/wiki/Fryns_syndrome
*  Coloboma - Wikipedia
Eye abnormalities have been shown to occur in over 90% of children with fetal alcohol syndrome. Other ocular malformations that ... www.rnib.org.uk/eye-health-eye-conditions-z-eye-conditions/coloboma#P92_9303 Hornby, SJ; Adolph, S; Gilbert, CE; Dandona, L; ... "Eye abnormalities in fetal alcohol syndrome". Ulster Med J. 78: 164-5. Sep 2009. PMC 2773598 . PMID 19907681. Pagon RA, Graham ... The term "cat eye" was coined because of the particular appearance of the vertical colobomas in the eyes of some patients. ...
  https://en.wikipedia.org/wiki/Coloboma
*  Griscelli syndrome type 2 - Wikipedia
These include delayed development, intellectual disability, seizures, hypotonia and eye abnormalities. Type 2 - unlike type 1 ...
  https://en.wikipedia.org/wiki/Griscelli_syndrome_type_2
*  Flynn-Aird syndrome - Wikipedia
The disease is characterized by early-onset dementia, ataxia, muscle wasting, skin atrophy, and eye abnormalities. In addition ... Other abnormalities may be due to endocrine system diseases. Only symptomatic treatment for the management of disturbances can ... and subcutaneous abnormalities. The skeletal problems are characterized by scoliosis and muscle weakness indicative of the ...
  https://en.wikipedia.org/wiki/Flynn%E2%80%93Aird_syndrome
*  Walker-Warburg syndrome - Wikipedia
It is associated with brain (lissencephaly, hydrocephalus, cerebellar malformations) and eye abnormalities. This condition has ... WWS are abnormally small eyes and retinal abnormalities cause by an underdeveloped light-sensitive area in the back of the eye ...
  https://en.wikipedia.org/wiki/Walker%E2%80%93Warburg_syndrome
*  Porphyria - Wikipedia
Patients may also show deformed, discolored teeth or gum and eye abnormalities. The porphyrias are generally considered genetic ...
  https://en.wikipedia.org/wiki/Porphyria
*  Cockayne syndrome - Wikipedia
The eyes of patients can be affected in various ways and eye abnormalities are common in CS. Cataracts and cloudiness of the ... eye abnormalities, and cavities are other very common features. Problems with any or all of the internal organs are possible. ... Nystagmus, or involuntary eye movement, and pupils that fail to dilate demonstrate a loss of control of voluntary and ... COFS syndrome is named so due to the effects it has on the brain, eyes, face, and skeletal system, as the disease frequently ...
  https://en.wikipedia.org/wiki/Cockayne_syndrome
*  PAX3 - Wikipedia
All four subtypes are characterized by hearing loss, eye abnormalities and pigmentation disorders. In addition, WS1 is ... Finally, limb musculature does not develop in the homozygotes and axial musculature demonstrates varying abnormalities. These ... which is associated with prominent neural tube closure defects and abnormalities of neural crest-derived structures, such as ... is frequently distinguished by musculoskeletal abnormalities affecting the upper limbs. Most WS1 cases are caused by ...
  https://en.wikipedia.org/wiki/PAX3
*  Calcium:cation antiporter-2 - Wikipedia
Other features include dysmorphism, hypotonia, eye abnormalities, acquired microcephaly, hepatomegaly, and skeletal dysplasia. ...
  https://en.wikipedia.org/wiki/Calcium:cation_antiporter-2
*  Smith-Magenis syndrome - Wikipedia
Some people with this disorder have ear abnormalities that lead to hearing loss. Affected individuals may have eye ... It is a microdeletion syndrome characterized by an abnormality in the short (p) arm of chromosome 17 and is sometimes called ... Facial features of children with Smith-Magenis syndrome include a broad face, deep-set eyes, large cheeks, and a prominent jaw ... Smith-Magenis Syndrome (SMS) is a genetic disorder with features including intellectual disability, facial abnormalities, ...
  https://en.wikipedia.org/wiki/Smith%E2%80%93Magenis_syndrome
*  Laminin, beta 2 - Wikipedia
LAMB2 gene mutation as a cause of congenital nephrotic syndrome with distinct eye abnormalities and hypotonia]". Przegla̧d ... "Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities". Human ...
  https://en.wikipedia.org/wiki/Laminin,_beta_2
*  Aicardi syndrome - Wikipedia
Eye abnormalities known as "lacunae" of the retina that are quite specific to this disorder; [optic nerve coloboma]]; and The ... ocular abnormalities (abstract). Electroenceph Clin Neurophysiol 1965; 19: 609-610 GeneReviews/NCBI/NIH/UW entry on Aicardi ... the presence of retinal abnormalities, and seizures in the form of infantile spasms. Aicardi syndrome is theorized to be caused ...
  https://en.wikipedia.org/wiki/Aicardi_syndrome
*  PRMT3 - Wikipedia
Homozygous males had abnormal peripheral blood lymphocyte counts and homozygotes of both sex had eye abnormalities. PRMT3 has ... "Eye morphology data for Prmt3". Wellcome Trust Sanger Institute. "Salmonella infection data for Prmt3". Wellcome Trust Sanger ... Twenty seven tests were carried out on mutant mice and seven significant abnormalities were observed. Fewer than predicted ...
  https://en.wikipedia.org/wiki/PRMT3
*  Broiler - Wikipedia
... chickens kept under these light conditions develop eye abnormalities such as macrophthalmos, avian glaucoma, ocular enlargement ... These leg abnormalities impair the locomotor abilities of the birds, and lame birds spend more time lying and sleeping. The ... In one example of these scales, GS=0 indicates normal walking ability, GS=3 indicates an obvious gait abnormality which affects ... CS1 maint: Uses authors parameter (link) Lauber, J.K. & Kinnear, A. (1979). "Eye enlargement in birds induced by dim light". ...
  https://en.wikipedia.org/wiki/Broiler
*  Parry-Romberg syndrome - Wikipedia
Enophthalmos (recession of the eyeball within the orbit) is the most common eye abnormality observed in Parry-Romberg syndrome ... eye, cheek, nose, mouth and jaw) and/or migraine (severe headaches that may be accompanied by visual abnormalities, nausea and ... Other ocular abnormalities include ophthalmoplegia (paralysis of one or more of the extraocular muscles) and other types of ... Half of these cases are associated with abnormalities in both the gray and white matter of the brain-usually ipsilateral but ...
  https://en.wikipedia.org/wiki/Parry%E2%80%93Romberg_syndrome
*  Alport syndrome - Wikipedia
Leiomyomatosis is confirmed by computed tomography (CT) scanning or magnetic resonance imaging (MRI). Various eye abnormalities ... Zhang KW, Colville D, Tan R, Jones C, Alexander SI, Fletcher J, Savige J (2008). "The use of ocular abnormalities to diagnose X ... Alport syndrome can also affect the eyes, though the changes do not usually affect sight, except when changes to the lens occur ... Since type IV collagen is found in the ears, eyes, and kidneys, this explains why Alport syndrome affects different seemingly ...
  https://en.wikipedia.org/wiki/Alport_syndrome
*  Dog breeding - Wikipedia
Some eye abnormalities, some heart conditions, and some cases of deafness have been proven to be inherited. There have been ... The rules may apply to the health of the dogs, such as joint x-rays, hip certifications, and eye examinations; to working ... large heads and eyes, ears that hang down rather than stand erect, etc.; characteristics which are shared by most juvenile ...
  https://en.wikipedia.org/wiki/Dog_breeding
*  Phocomelia - Wikipedia
Palsy disorder of the face Ear and eye abnormalities; resulting in limited/complete loss of hearing or sight Gastrointestinal ... The pigment of the eyes will be a bluish white. Phocomelia can also cause: an undeveloped nose with slender nostrils, ... In both Roberts Syndrome and phocomelia the cells cease to develop, or die, preventing proper development of the limbs, eyes, ... Although operations may improve some abnormalities, many are not surgically treatable due to the lack of nerves and other ...
  https://en.wikipedia.org/wiki/Phocomelia
*  Neuroacanthocytosis - Wikipedia
Eye movement abnormalities are also seen. There are about 500-1,000 cases of chorea acanthocytosis worldwide and it is not ... In neuroacanthocytosis, acanthocytes are caused by protein but not lipid membrane abnormalities The 'core' neuroacanthocytosis ... red blood cells and can be caused by altered distribution of membrane lipids or membrane protein/skeleton abnormalities. ...
  https://en.wikipedia.org/wiki/Neuroacanthocytosis
*  Sandhoff disease - Wikipedia
An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this ... Some infants with Sandhoff disease may have enlarged organs (organomegaly) or bone abnormalities. Children with the severe form ...
  https://en.wikipedia.org/wiki/Sandhoff_disease
*  Pikachurin - Wikipedia
A non-correct binding between pikachurin and DG is associated with muscular dystrophies that often involve eye abnormalities. ... The muscle-eye-brain dystrophy is caused by mutations in POMGnT1 or LARGE. These two genes mediated a post-translational ... Congenital muscular dystrophies (CMD) such as muscle-eye-brain disease are caused by defective glycosylation of α-dystroglycan ... Osaka Bioscience Institute believe that the protein could be used to develop a treatment for retinitis pigmentosa and other eye ...
  https://en.wikipedia.org/wiki/Pikachurin
*  Zika fever - Wikipedia
Zika also appears to have an equal tropism for cells of the developing eye, leading to high rates of eye abnormalities as well ... The most common observed associations have been abnormalities with brain and eye development such as microcephaly and ... Avoid applying repellent to their hands, eyes, or mouth Stay and sleep in screened-in or air-conditioned rooms Use a bed net if ... These abnormalities can lead to intellectual problems, seizures, vision problems, hearing problems, problems feeding and slow ...
  https://en.wikipedia.org/wiki/Zika_fever
*  Incontinentia pigmenti - Wikipedia
Other symptoms can include hair loss, dental abnormalities, eye abnormalities that can lead to vision loss, and lined or pitted ... It is not inherited and does not involve skin stages 1 or 2. Some 33-50% of patients have multisystem involvement - eye, ... It is characterized by skin abnormalities that begin in childhood, usually a blistering rash which heals, followed by the ... They are also likely to have visual problems, which can include: crossed eyes, cataracts, and severe visual loss. Dental ...
  https://en.wikipedia.org/wiki/Incontinentia_pigmenti
*  PHACES Syndrome - Wikipedia
Posterior fossa malformations-hemangiomas-arterial anomalies-cardiac defects-eye abnormalities-sternal cleft and supraumbilical ... and eye abnormalities". Archives of Dermatology. 132 (3): 307-311. doi:10.1001/archderm.132.3.307. PMID 8607636. Phace Syndrome ... aortic coarctation and other aortic abnormalities Eye anomalies Sometimes an "S" is added to PHACE making the acronym PHACES; ... Echocardiogram Eye exam by an eye doctor Other tests may be needed for diagnosis and treatment Usually the hemangioma requires ...
  https://en.wikipedia.org/wiki/PHACES_Syndrome
*  Connective tissue disease - Wikipedia
... eye abnormalities, hearing loss, and joint problems. Alport syndrome - defects in collagen (type IV), found in the renal ... It also can affect the heart, lungs, and eyes. Of the estimated 2.1 million Americans with rheumatoid arthritis, approximately ... Collagen vascular diseases can be (but are not necessarily) associated with collagen and blood vessel abnormalities and that ... Each also has "classic" blood test abnormalities and abnormal antibody patterns. However, each of these diseases can evolve ...
  https://en.wikipedia.org/wiki/Connective_tissue_disease