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Amblyopia

MedGen UID:
8009
Concept ID:
C0002418
Disease or Syndrome; Finding
Synonyms: Lazy eye; Wandering eye; Wandering eyes
SNOMED CT: Amblyopia (387742006); Amblyopic (387742006)
 
HPO: HP:0000646

Term Hierarchy

Conditions with this feature

DiGeorge sequence
MedGen UID:
4297
Concept ID:
C0012236
Disease or Syndrome
Individuals with 22q11.2 deletion syndrome (22q11.2DS) have a range of findings including the following: Congenital heart disease (74% of individuals), particularly conotruncal malformations (tetralogy of Fallot, interrupted aortic arch, ventricular septal defect, and truncus arteriosus). Palatal abnormalities (69%), particularly velopharyngeal incompetence, submucosal cleft palate, bifid uvula, and cleft palate. Characteristic facial features (present in the majority of individuals of northern European heritage). Learning difficulties (70%-90%). An immune deficiency (regardless of the clinical presentation) (77%). Additional findings include the following: Hypocalcemia (50%). Significant feeding and swallowing problems; constipation with or without structural gastrointestinal anomalies (intestinal malrotation, imperforate anus, and Hirschsprung disease). Renal anomalies (31%). Hearing loss (both conductive and sensorineural). Laryngotracheoesophageal anomalies. Growth hormone deficiency. Autoimmune disorders. Seizures (idiopathic or associated with hypocalcemia). CNS anomalies including tethered cord. Skeletal abnormalities (scoliosis with or without vertebral anomalies, clubbed feet, polydactyly, and craniosynostosis). Ophthalmologic abnormalities (strabismus, posterior embryotoxon, tortuous retinal vessels, scleracornea, and anophthalmia). Enamel hypoplasia. Malignancies (rare). Developmental delay (in particular delays in emergence of language), intellectual disability, and learning differences (non-verbal learning disability where the verbal IQ is significantly greater than the performance IQ) are common. Autism or autistic spectrum disorder is found in approximately 20% of children and psychiatric illness (specifically schizophrenia) is present in 25% of adults; however, attention deficit disorder, anxiety, perseveration, and difficulty with social interactions are also common.
Bannayan-Riley-Ruvalcaba syndrome
MedGen UID:
78554
Concept ID:
C0265326
Disease or Syndrome
The PTEN hamartoma tumor syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and Proteus-like syndrome. CS is a multiple hamartoma syndrome with a high risk for benign and malignant tumors of the thyroid, breast, and endometrium. Affected individuals usually have macrocephaly, trichilemmomas, and papillomatous papules, and present by the late 20s. The lifetime risk of developing breast cancer is 85%, with an average age of diagnosis between 38 and 46 years. The lifetime risk for thyroid cancer (usually follicular, rarely papillary, but never medullary thyroid cancer) is approximately 35%. The risk for endometrial cancer may approach 28%. BRRS is a congenital disorder characterized by macrocephaly, intestinal hamartomatous polyposis, lipomas, and pigmented macules of the glans penis. PS is a complex, highly variable disorder involving congenital malformations and hamartomatous overgrowth of multiple tissues, as well as connective tissue nevi, epidermal nevi, and hyperostoses. Proteus-like syndrome is undefined but refers to individuals with significant clinical features of PS who do not meet the diagnostic criteria for PS.
11q partial monosomy syndrome
MedGen UID:
162878
Concept ID:
C0795841
Disease or Syndrome
Jacobsen syndrome is a condition caused by a loss of genetic material from chromosome 11. Because this deletion occurs at the end (terminus) of the long (q) arm of chromosome 11, Jacobsen syndrome is also known as 11q terminal deletion disorder.The signs and symptoms of Jacobsen syndrome vary considerably. Most affected individuals have delayed development, including the development of speech and motor skills (such as sitting, standing, and walking). Most also have cognitive impairment and learning difficulties. Behavioral problems have been reported, including compulsive behavior (such as shredding paper), a short attention span, and easy distractibility. Many people with Jacobsen syndrome have been diagnosed with attention deficit-hyperactivity disorder (ADHD). Jacobsen syndrome is also associated with an increased likelihood of autism spectrum disorders, which are characterized by impaired communication and socialization skills.Jacobsen syndrome is also characterized by distinctive facial features. These include small and low-set ears, widely set eyes (hypertelorism) with droopy eyelids (ptosis), skin folds covering the inner corner of the eyes (epicanthal folds), a broad nasal bridge, downturned corners of the mouth, a thin upper lip, and a small lower jaw. Affected individuals often have a large head size (macrocephaly) and a skull abnormality called trigonocephaly, which gives the forehead a pointed appearance.More than 90 percent of people with Jacobsen syndrome have a bleeding disorder called Paris-Trousseau syndrome. This condition causes a lifelong risk of abnormal bleeding and easy bruising. Paris-Trousseau syndrome is a disorder of platelets, which are blood cell fragments that are necessary for blood clotting.Other features of Jacobsen syndrome can include heart defects, feeding difficulties in infancy, short stature, frequent ear and sinus infections, and skeletal abnormalities. The disorder can also affect the digestive system, kidneys, and genitalia. The life expectancy of people with Jacobsen syndrome is unknown, although affected individuals have lived into adulthood.
Mental and growth retardation with amblyopia
MedGen UID:
331885
Concept ID:
C1835028
Disease or Syndrome
Hemifacial hyperplasia strabismus
MedGen UID:
330655
Concept ID:
C1841640
Disease or Syndrome
Craniosynostosis with ocular abnormalities and hallucal defects
MedGen UID:
331266
Concept ID:
C1842316
Disease or Syndrome
Senior-Loken syndrome 4
MedGen UID:
337697
Concept ID:
C1846979
Disease or Syndrome
Senior-Løken syndrome is a rare disorder characterized by the combination of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis.Nephronophthisis causes fluid-filled cysts to develop in the kidneys beginning in childhood. These cysts impair kidney function, initially causing increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). Nephronophthisis leads to end-stage renal disease (ESRD) later in childhood or in adolescence. ESRD is a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively.Leber congenital amaurosis primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. This condition causes vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). Some people with Senior-Løken syndrome develop the signs of Leber congenital amaurosis within the first few years of life, while others do not develop vision problems until later in childhood.
Ophthalmoplegia totalis with ptosis and miosis
MedGen UID:
342471
Concept ID:
C1850314
Disease or Syndrome
Total ophthalmoplegia involves total paralysis of all extra- and intraocular muscles. If one or more of the external muscles, including the levator palpebrae, is not affected, the condition is known as incomplete or partial ophthalmoplegia. If only 1 nerve is affected, the palsy is named after that nerve (see, e.g., abducens palsy, 100200) (Waardenburg, 1963).
Cataract, coppock-like
MedGen UID:
343810
Concept ID:
C1852438
Disease or Syndrome
Mutations in the CRYGC gene have been found to cause several types of cataract, which have been described as Coppock-like; embryonic, fetal, infantile nuclear; zonular pulverulent; and lamellar. Some patients also exhibit microcornea. Before it was known that mutations in the CRYGC gene cause several types of cataract, this entry was titled 'Cataract, Coppock-like,' with the symbol CCL.
Spondyloocular syndrome, autosomal recessive
MedGen UID:
343011
Concept ID:
C1853925
Disease or Syndrome
Cataract, autosomal dominant
MedGen UID:
347693
Concept ID:
C1858679
Disease or Syndrome
Mutations in the CRYAA gene have been found to cause multiple types of cataract, which have been described as nuclear, zonular central nuclear, laminar, lamellar, anterior polar, posterior polar, cortical, embryonal, anterior subcapsular, fan-shaped, and total. Cataract associated with microcornea, sometimes called the cataract-microcornea syndrome, is also caused by mutation in the CRYAA gene. Both autosomal dominant and autosomal recessive modes of inheritance have been reported. The symbol CATC1 was formerly used for the autosomal recessive form of cataract caused by mutation in the CRYAA gene.
Fibrosis of extraocular muscles, congenital, 2
MedGen UID:
356119
Concept ID:
C1865915
Disease or Syndrome
Congenital fibrosis of the extraocular muscles (CFEOM) refers to at least eight genetically defined strabismus syndromes (CFEOM1A, CFEOM1B, CFEOM2, CFEOM3A, CFEOM3B, CFEOM3C, Tukel syndrome, and CFEOM3 with polymicrogyria) characterized by congenital non-progressive ophthalmoplegia (inability to move the eyes) with or without ptosis (droopy eyelids) affecting part or all of the oculomotor nucleus and nerve (cranial nerve III) and its innervated muscles (superior, medial, and inferior recti, inferior oblique, and levator palpabrae superioris) and/or the trochlear nucleus and nerve (cranial nerve IV) and its innervated muscle (the superior oblique). In general, affected individuals have severe limitation of vertical gaze (usually upgaze) and variable limitation of horizontal gaze. Individuals with CFEOM frequently compensate for the ophthalmoplegia by maintaining abnormal head positions at rest and by moving their heads rather than their eyes to track objects. Individuals with CFEOM3A may also have intellectual disability, social disability, Kallmann syndrome, facial weakness, and vocal cord paralysis; and/or may develop a progressive sensorimotor axonal polyneuropathy. Individuals with Tukel syndrome also have postaxial oligodactyly or oligosyndactyly of the hands. Those with CFEOM3 with polymicrogyria also have microcephaly and intellectual disability.
Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement
MedGen UID:
412638
Concept ID:
C2748801
Disease or Syndrome
Congenital fibrosis of the extraocular muscles (CFEOM) refers to at least eight genetically defined strabismus syndromes (CFEOM1A, CFEOM1B, CFEOM2, CFEOM3A, CFEOM3B, CFEOM3C, Tukel syndrome, and CFEOM3 with polymicrogyria) characterized by congenital non-progressive ophthalmoplegia (inability to move the eyes) with or without ptosis (droopy eyelids) affecting part or all of the oculomotor nucleus and nerve (cranial nerve III) and its innervated muscles (superior, medial, and inferior recti, inferior oblique, and levator palpabrae superioris) and/or the trochlear nucleus and nerve (cranial nerve IV) and its innervated muscle (the superior oblique). In general, affected individuals have severe limitation of vertical gaze (usually upgaze) and variable limitation of horizontal gaze. Individuals with CFEOM frequently compensate for the ophthalmoplegia by maintaining abnormal head positions at rest and by moving their heads rather than their eyes to track objects. Individuals with CFEOM3A may also have intellectual disability, social disability, Kallmann syndrome, facial weakness, and vocal cord paralysis; and/or may develop a progressive sensorimotor axonal polyneuropathy. Individuals with Tukel syndrome also have postaxial oligodactyly or oligosyndactyly of the hands. Those with CFEOM3 with polymicrogyria also have microcephaly and intellectual disability.
Nystagmus 6, congenital, X-linked
MedGen UID:
463102
Concept ID:
C3151752
Disease or Syndrome
Classic congenital or infantile nystagmus presents as conjugate, horizontal oscillations of the eyes, in primary or eccentric gaze, often with a preferred head turn or tilt. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. Eye movement recordings reveal that infantile nystagmus is predominantly a horizontal jerk waveform, with a diagnostic accelerating velocity slow phase. However, pendular and triangular waveforms may also be present. The nystagmus may rarely be vertical. As these patients often have normal visual acuity, it is presumed that the nystagmus represents a primary defect in the parts of the brain responsible for ocular motor control; thus the disorder has sometimes been termed 'congenital motor nystagmus' (Tarpey et al., 2006; Shiels et al., 2007). For a discussion of genetic heterogeneity of congenital nystagmus, see NYS1 (310700).
Bornholm eye disease
MedGen UID:
463611
Concept ID:
C3159311
Disease or Syndrome
Bornholm eye disease consists of X-linked high myopia, amblyopia, and deuteranopia. Associated signs include optic nerve hypoplasia, reduced electroretinographic (ERG) flicker, and nonspecific retinal pigment abnormalities (Schwartz et al., 1990).
Multiple congenital anomalies-hypotonia-seizures syndrome 1
MedGen UID:
481405
Concept ID:
C3279775
Disease or Syndrome
Multiple congenital anomalies-hypotonia-seizures syndrome is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age (summary by Maydan et al., 2011). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (610293). Genetic Heterogeneity of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome MCAHS2 (300868) is caused by mutation in the PIGA gene (311770) on chromosome Xp22, and MCAHS3 (615398) is caused by mutation in the PIGT gene (610272) on chromosome 20q13.
Poretti-boltshauser syndrome
MedGen UID:
863258
Concept ID:
C4014821
Disease or Syndrome
Poretti-Boltshauser syndrome is an autosomal recessive disorder characterized by cerebellar dysplasia, cerebellar vermis hypoplasia, cerebellar cysts in most patients, high myopia, variable retinal dystrophy, and eye movement abnormalities. Affected individuals have delayed motor development and often have speech delay. Cognitive function can range from normal to intellectually disabled (summary by Aldinger et al., 2014).
Mental retardation, autosomal dominant 33
MedGen UID:
899389
Concept ID:
C4225375
Mental or Behavioral Dysfunction
Optic atrophy 11
MedGen UID:
934595
Concept ID:
C4310628
Disease or Syndrome
OPA11 is an autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy on brain imaging. Laboratory studies are consistent with mitochondrial dysfunction (summary by Hartmann et al., 2016). For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500).
RAHMAN SYNDROME
MedGen UID:
1388282
Concept ID:
C4479637
Disease or Syndrome

Recent clinical studies

Etiology

Kim SJ, Jeon H, Jung JH, Lee KM, Choi HY
Graefes Arch Clin Exp Ophthalmol 2018 Feb;256(2):429-437. Epub 2017 Dec 4 doi: 10.1007/s00417-017-3851-2. PMID: 29204689
Araki S, Miki A, Goto K, Yamashita T, Takizawa G, Haruishi K, Ieki Y, Kiryu J, Yaoeda K
BMC Ophthalmol 2017 Sep 15;17(1):167. doi: 10.1186/s12886-017-0559-3. PMID: 28915835Free PMC Article
Burggraaf F, Verkaik-Rijneveld MC, Wubbels RJ, de Jongh E
Strabismus 2017 Sep;25(3):160-165. Epub 2017 Aug 3 doi: 10.1080/09273972.2017.1350726. PMID: 28771067
Aslan Bayhan S, Bayhan HA
Curr Eye Res 2017 Sep;42(9):1254-1259. Epub 2017 Jun 20 doi: 10.1080/02713683.2017.1315141. PMID: 28632403
Kirandi EU, Akar S, Gokyigit B, Onmez FEA, Oto S
Int Ophthalmol 2017 Aug;37(4):835-842. Epub 2016 Sep 12 doi: 10.1007/s10792-016-0345-x. PMID: 27620472

Diagnosis

Kim SJ, Jeon H, Jung JH, Lee KM, Choi HY
Graefes Arch Clin Exp Ophthalmol 2018 Feb;256(2):429-437. Epub 2017 Dec 4 doi: 10.1007/s00417-017-3851-2. PMID: 29204689
Burggraaf F, Verkaik-Rijneveld MC, Wubbels RJ, de Jongh E
Strabismus 2017 Sep;25(3):160-165. Epub 2017 Aug 3 doi: 10.1080/09273972.2017.1350726. PMID: 28771067
Hoshi S, Hiraoka T, Kotsuka J, Sato Y, Izumida S, Kato A, Ueno Y, Fukuda S, Oshika T
Graefes Arch Clin Exp Ophthalmol 2017 Jun;255(6):1245-1250. Epub 2017 Feb 24 doi: 10.1007/s00417-017-3623-z. PMID: 28236002
Kirandi EU, Akar S, Gokyigit B, Onmez FEA, Oto S
Int Ophthalmol 2017 Aug;37(4):835-842. Epub 2016 Sep 12 doi: 10.1007/s10792-016-0345-x. PMID: 27620472
Koylu MT, Ozge G, Kucukevcilioglu M, Mutlu FM, Ceylan OM, Akıncıoglu D, Ayyıldız O
Semin Ophthalmol 2017;32(5):553-558. Epub 2016 May 18 doi: 10.3109/08820538.2015.1123739. PMID: 27191734

Therapy

Kim SJ, Jeon H, Jung JH, Lee KM, Choi HY
Graefes Arch Clin Exp Ophthalmol 2018 Feb;256(2):429-437. Epub 2017 Dec 4 doi: 10.1007/s00417-017-3851-2. PMID: 29204689
Koo EB, Gilbert AL, VanderVeen DK
Semin Ophthalmol 2017;32(1):1-7. Epub 2016 Oct 17 doi: 10.1080/08820538.2016.1228408. PMID: 27748640
O'Boyle C, Chen SI, Little JA
Br J Ophthalmol 2017 Apr;101(4):457-461. Epub 2016 Jul 7 doi: 10.1136/bjophthalmol-2015-307677. PMID: 27388249Free PMC Article
Guo CX, Babu RJ, Black JM, Bobier WR, Lam CS, Dai S, Gao TY, Hess RF, Jenkins M, Jiang Y, Kowal L, Parag V, South J, Staffieri SE, Walker N, Wadham A, Thompson B; BRAVO study team.
Trials 2016 Oct 18;17(1):504. doi: 10.1186/s13063-016-1635-3. PMID: 27756405Free PMC Article
Tailor V, Bossi M, Greenwood JA, Dahlmann-Noor A
Br Med Bull 2016 Sep;119(1):75-86. Epub 2016 Aug 19 doi: 10.1093/bmb/ldw030. PMID: 27543498

Prognosis

Kim SJ, Jeon H, Jung JH, Lee KM, Choi HY
Graefes Arch Clin Exp Ophthalmol 2018 Feb;256(2):429-437. Epub 2017 Dec 4 doi: 10.1007/s00417-017-3851-2. PMID: 29204689
Burggraaf F, Verkaik-Rijneveld MC, Wubbels RJ, de Jongh E
Strabismus 2017 Sep;25(3):160-165. Epub 2017 Aug 3 doi: 10.1080/09273972.2017.1350726. PMID: 28771067
Aslan Bayhan S, Bayhan HA
Curr Eye Res 2017 Sep;42(9):1254-1259. Epub 2017 Jun 20 doi: 10.1080/02713683.2017.1315141. PMID: 28632403
Hoshi S, Hiraoka T, Kotsuka J, Sato Y, Izumida S, Kato A, Ueno Y, Fukuda S, Oshika T
Graefes Arch Clin Exp Ophthalmol 2017 Jun;255(6):1245-1250. Epub 2017 Feb 24 doi: 10.1007/s00417-017-3623-z. PMID: 28236002
Kirandi EU, Akar S, Gokyigit B, Onmez FEA, Oto S
Int Ophthalmol 2017 Aug;37(4):835-842. Epub 2016 Sep 12 doi: 10.1007/s10792-016-0345-x. PMID: 27620472

Clinical prediction guides

Kim SJ, Jeon H, Jung JH, Lee KM, Choi HY
Graefes Arch Clin Exp Ophthalmol 2018 Feb;256(2):429-437. Epub 2017 Dec 4 doi: 10.1007/s00417-017-3851-2. PMID: 29204689
Lonngi M, Velez FG, Tsui I, Davila JP, Rahimi M, Chan C, Sarraf D, Demer JL, Pineles SL
JAMA Ophthalmol 2017 Oct 1;135(10):1086-1091. doi: 10.1001/jamaophthalmol.2017.3423. PMID: 28910439Free PMC Article
Burggraaf F, Verkaik-Rijneveld MC, Wubbels RJ, de Jongh E
Strabismus 2017 Sep;25(3):160-165. Epub 2017 Aug 3 doi: 10.1080/09273972.2017.1350726. PMID: 28771067
Liang M, Xie B, Yang H, Yin X, Wang H, Yu L, He S, Wang J
Neuroradiology 2017 May;59(5):517-524. Epub 2017 Mar 24 doi: 10.1007/s00234-017-1824-0. PMID: 28341991
Hoshi S, Hiraoka T, Kotsuka J, Sato Y, Izumida S, Kato A, Ueno Y, Fukuda S, Oshika T
Graefes Arch Clin Exp Ophthalmol 2017 Jun;255(6):1245-1250. Epub 2017 Feb 24 doi: 10.1007/s00417-017-3623-z. PMID: 28236002

Recent systematic reviews

Koo EB, Gilbert AL, VanderVeen DK
Semin Ophthalmol 2017;32(1):1-7. Epub 2016 Oct 17 doi: 10.1080/08820538.2016.1228408. PMID: 27748640
Vagge A, Nelson LB
Curr Opin Ophthalmol 2016 Sep;27(5):380-6. doi: 10.1097/ICU.0000000000000293. PMID: 27152486
Maconachie GD, Gottlob I
Biomed J 2015 Dec;38(6):510-6. Epub 2016 Feb 28 doi: 10.1016/j.bj.2015.06.001. PMID: 27013450
Tsirlin I, Colpa L, Goltz HC, Wong AM
Invest Ophthalmol Vis Sci 2015 Jun;56(6):4061-75. doi: 10.1167/iovs.15-16583. PMID: 26114483
Levi DM, Knill DC, Bavelier D
Vision Res 2015 Sep;114:17-30. Epub 2015 Jan 29 doi: 10.1016/j.visres.2015.01.002. PMID: 25637854Free PMC Article

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