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Ocular albinism

MedGen UID:
504729
Concept ID:
CN001040
Finding
Synonyms: Albinism, Ocular
 
HPO: HP:0001107

Definition

An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina. [from HPO]

Conditions with this feature

Chédiak-Higashi syndrome
MedGen UID:
3347
Concept ID:
C0007965
Disease or Syndrome
Chediak-Higashi syndrome (CHS) is characterized by partial oculocutaneous albinism (OCA), immunodeficiency, and a mild bleeding tendency. Approximately 85% of affected individuals develop the accelerated phase, a lymphoproliferative infiltration of the bone marrow and reticuloendothelial system. All affected individuals including adolescents and adults with atypical CHS and children with classic CHS who have successfully undergone allogenic hematopoietic stem cell transplantation (HSCT) develop neurologic findings during early adulthood.
Tyrosinase-negative oculocutaneous albinism
MedGen UID:
82809
Concept ID:
C0268494
Disease or Syndrome
Oculocutaneous albinism type 1 (OCA1) is characterized by hypopigmentation of the skin and hair and the distinctive ocular changes found in all types of albinism, including: nystagmus; reduced iris pigment with iris translucency; reduced retinal pigment with visualization of the choroidal blood vessels on ophthalmoscopic examination; foveal hypoplasia with substantial reduction in visual acuity, usually in the range of 20/100 to 20/400; and misrouting of the optic nerve fiber radiations at the chiasm, resulting in strabismus, reduced stereoscopic vision, and altered visually evoked potentials (VEP). Individuals with OCA1A have white hair, white skin that does not tan, and fully translucent irides, none of which darken with age. At birth, individuals with OCA1B have white or very light yellow hair that darkens minimally with age, white skin that over time develops some minimal generalized pigment and may tan slightly with judicious sun exposure, and blue irides that darken to green/hazel or light brown/tan with age, although transillumination defects persist. Visual acuity may be 20/60 or better in some eyes.
Tyrosinase-positive oculocutaneous albinism
MedGen UID:
82810
Concept ID:
C0268495
Disease or Syndrome
Oculocutaneous albinism type 2 (OCA2) is characterized by hypopigmentation of the skin and hair and the characteristic ocular changes found in all types of albinism, including nystagmus; reduced iris pigment with iris translucency; reduced retinal pigment with visualization of the choroidal blood vessels on ophthalmoscopic examination; foveal hypoplasia associated with reduction in visual acuity; and misrouting of the optic nerve fiber radiations at the chiasm, associated with strabismus, reduced stereoscopic vision, and altered visual evoked potentials (VEP). Individuals with OCA2 are usually recognized within the first three to six months of life because of the ocular features of visual inattention, nystagmus, and strabismus. Vision is stable to slowly improving after early childhood until mid- to late teens, and no major change or loss of established visual acuity occurs related to the albinism. The amount of cutaneous pigmentation in OCA2 ranges from minimal to near-normal compared to others of the same ethnic and family backgrounds. Newborns with OCA2 almost always have lightly pigmented hair, brows, and lashes, with color ranging from light yellow to blond to brown. Hair color may darken with age but does not vary substantially from adolescence to adulthood. Brown OCA, initially identified in Africans and African Americans with light brown hair and skin, is part of the spectrum of OCA2.
Cross syndrome
MedGen UID:
82811
Concept ID:
C0268496
Congenital Abnormality
A syndrome of gingival fibromatosis, pigmentation disorders, microphthalmia, and delayed psychomotor development. It was first observed in the Kramer family, hence the synonym Kramer syndrome.
Ocular albinism, type I
MedGen UID:
90991
Concept ID:
C0342684
Disease or Syndrome
X-linked ocular albinism (XLOA) is a disorder of melanosome biogenesis leading to minor skin manifestations and congenital and persistent visual impairment in affected males. XLOA is characterized by infantile nystagmus, reduced visual acuity, hypopigmentation of the iris pigment epithelium and the ocular fundus, and foveal hypoplasia. Significant refractive errors, reduced or absent binocular functions, photoaversion, and strabismus are common. XLOA is a non-progressive disorder and the visual acuity remains stable throughout life, often slowly improving into the mid-teens.
Osteoporosis oculocutaneous hypopigmentation syndrome
MedGen UID:
331321
Concept ID:
C1832592
Disease or Syndrome
Griscelli syndrome type 3
MedGen UID:
373124
Concept ID:
C1836573
Disease or Syndrome
Griscelli syndrome is an inherited condition characterized by unusually light (hypopigmented) skin and light silvery-gray hair starting in infancy. Researchers have identified three types of this disorder, which are distinguished by their genetic cause and pattern of signs and symptoms. Griscelli syndrome type 1 involves severe problems with brain function in addition to the distinctive skin and hair coloring. Affected individuals typically have delayed development, intellectual disability, seizures, weak muscle tone (hypotonia), and eye and vision abnormalities. Another condition called Elejalde disease has many of the same signs and symptoms, and some researchers have proposed that Griscelli syndrome type 1 and Elejalde disease are actually the same disorder. People with Griscelli syndrome type 2 have immune system abnormalities in addition to having hypopigmented skin and hair. Affected individuals are prone to recurrent infections. They also develop an immune condition called hemophagocytic lymphohistiocytosis (HLH), in which the immune system produces too many activated immune cells called T-lymphocytes and macrophages (histiocytes). Overactivity of these cells can damage organs and tissues throughout the body, causing life-threatening complications if the condition is untreated. People with Griscelli syndrome type 2 do not have the neurological abnormalities of type 1. Unusually light skin and hair coloring are the only features of Griscelli syndrome type 3. People with this form of the disorder do not have neurological abnormalities or immune system problems.
Atrioventricular septal defect with blepharophimosis and anal and radial defects
MedGen UID:
374010
Concept ID:
C1838606
Disease or Syndrome
Hermansky Pudlak syndrome 2
MedGen UID:
374912
Concept ID:
C1842362
Disease or Syndrome
Hermansky-Pudlak syndrome (HPS) is a multisystem disorder characterized by: tyrosinase-positive oculocutaneous albinism; a bleeding diathesis resulting from a platelet storage pool deficiency; and, in some cases, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. The albinism is characterized by: hypopigmentation of the skin and hair; and ocular findings of reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in easy bruising, frequent epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects are associated primarily with HPS-2.
Chromosome 1p36 deletion syndrome
MedGen UID:
334629
Concept ID:
C1842870
Disease or Syndrome
1p36 deletion syndrome is characterized by typical craniofacial features consisting of straight eyebrows, deeply set eyes, midface retrusion, wide and depressed nasal bridge, long philtrum, pointed chin, large, late-closing anterior fontanel (77%), microbrachycephaly (65%), epicanthal folds (50%), and posteriorly rotated, low-set, abnormal ears. Other characteristic findings include brachy/camptodactyly and short feet. Developmental delay/intellectual disability of variable degree are present in all, and hypotonia in 95%. Seizures occur in 44%-58% of affected individuals. Other findings include structural brain abnormalities (88%), congenital heart defects (71%), eye/vision problems (52%), hearing loss (47%), skeletal anomalies (41%), abnormalities of the external genitalia (25%), and renal abnormalities (22%).
Albinism ocular late onset sensorineural deafness
MedGen UID:
337149
Concept ID:
C1845069
Disease or Syndrome
Ocular albinism is a genetic condition that primarily affects the eyes. This condition reduces the coloring (pigmentation) of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue at the back of the eye. Pigmentation in the eye is essential for normal vision. Ocular albinism is characterized by severely impaired sharpness of vision (visual acuity) and problems with combining vision from both eyes to perceive depth (stereoscopic vision). Although the vision loss is permanent, it does not worsen over time. Other eye abnormalities associated with this condition include rapid, involuntary eye movements (nystagmus); eyes that do not look in the same direction (strabismus); and increased sensitivity to light (photophobia). Many affected individuals also have abnormalities involving the optic nerves, which carry visual information from the eye to the brain. Unlike some other forms of albinism, ocular albinism does not significantly affect the color of the skin and hair. People with this condition may have a somewhat lighter complexion than other members of their family, but these differences are usually minor. The most common form of ocular albinism is known as the Nettleship-Falls type or type 1. Other forms of ocular albinism are much rarer and may be associated with additional signs and symptoms, such as hearing loss.
Oculocutaneous albinism type 1B
MedGen UID:
337712
Concept ID:
C1847024
Disease or Syndrome
Oculocutaneous albinism type 1 (OCA1) is characterized by hypopigmentation of the skin and hair and the distinctive ocular changes found in all types of albinism, including: nystagmus; reduced iris pigment with iris translucency; reduced retinal pigment with visualization of the choroidal blood vessels on ophthalmoscopic examination; foveal hypoplasia with substantial reduction in visual acuity, usually in the range of 20/100 to 20/400; and misrouting of the optic nerve fiber radiations at the chiasm, resulting in strabismus, reduced stereoscopic vision, and altered visually evoked potentials (VEP). Individuals with OCA1A have white hair, white skin that does not tan, and fully translucent irides, none of which darken with age. At birth, individuals with OCA1B have white or very light yellow hair that darkens minimally with age, white skin that over time develops some minimal generalized pigment and may tan slightly with judicious sun exposure, and blue irides that darken to green/hazel or light brown/tan with age, although transillumination defects persist. Visual acuity may be 20/60 or better in some eyes.
Oculocutaneous albinism type 4
MedGen UID:
338324
Concept ID:
C1847836
Disease or Syndrome
Oculocutaneous albinism type 4 (OCA4) is characterized by hypopigmentation of the skin and hair plus the characteristic ocular changes found in all other types of albinism, including nystagmus; reduced iris pigment with iris translucency; reduced retinal pigment with visualization of the choroidal blood vessels on ophthalmoscopic examination; foveal hypoplasia associated with reduction in visual acuity; and misrouting of the optic nerves at the chiasm associated with alternating strabismus, reduced stereoscopic vision, and an altered visual evoked potential (VEP). Individuals with OCA4 are usually recognized within the first year of life because of hypopigmentation of the hair and skin and the ocular features of nystagmus and strabismus. Vision is likely to be stable after early childhood. The amount of cutaneous pigmentation in OCA4 ranges from minimal to near normal. Newborns with OCA4 usually have some pigment in their hair, with color ranging from silvery white to light yellow. Hair color may darken with time, but does not vary significantly from childhood to adulthood. This form of albinism is rarer than OCA2, except in the Japanese population.
Oculocerebral hypopigmentation syndrome of preus
MedGen UID:
342477
Concept ID:
C1850340
Disease or Syndrome
Absent corpus callosum cataract immunodeficiency
MedGen UID:
340962
Concept ID:
C1855772
Disease or Syndrome
Vici syndrome is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum, cataracts, pigmentary defects, progressive cardiomyopathy, and variable immunodeficiency. Affected individuals also have profound psychomotor retardation and hypotonia due to a myopathy (summary by Finocchi et al., 2012).
Ermine phenotype
MedGen UID:
346466
Concept ID:
C1856899
Disease or Syndrome
Griscelli syndrome type 1
MedGen UID:
347092
Concept ID:
C1859194
Disease or Syndrome
Griscelli syndrome type 1 (GS1) represents hypomelanosis with a primary neurologic deficit and without immunologic impairment or manifestations of hemophagocytic syndrome (Menasche et al., 2002). Griscelli syndrome with immune impairment, or Griscelli syndrome type 2 (607624), is caused by mutation in the RAB27A gene (603868). Griscelli syndrome type 3 (609227), characterized by hypomelanosis with no immunologic or neurologic manifestations, can be caused by mutation in the melanophilin (MLPH; 606526) or MYO5A genes. Griscelli syndrome is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. While most patients also develop hemophagocytic syndrome, leading to death in the absence of bone marrow transplantation (Menasche et al., 2000), some show severe neurologic impairment early in life without apparent immune abnormalities. Bahadoran et al. (2003) characterized GS1 as comprising hypomelanosis and severe central nervous system dysfunction, corresponding to the 'dilute' phenotype in the mouse, and GS2 as comprising hypomelanosis and lymphohistiocytotic hemophagocytosis, corresponding to the 'ashen' phenotype in mouse. Anikster et al. (2002), Menasche et al. (2002), Huizing et al. (2002), and Bahadoran et al. (2003, 2003) suggested that Elejalde syndrome (256710) in some patients and GS1 represent the same entity.
Spinocerebellar ataxia, autosomal recessive 2
MedGen UID:
349134
Concept ID:
C1859298
Disease or Syndrome
Microcephaly albinism digital anomalies syndrome
MedGen UID:
395372
Concept ID:
C1859910
Disease or Syndrome
Oculocutaneous albinism type 3
MedGen UID:
395376
Concept ID:
C1859932
Disease or Syndrome
Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. Oculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); and increased sensitivity to light (photophobia). The four types of oculocutaneous albinism are designated as type 1 (OCA1) through type 4 (OCA4). Oculocutaneous albinism type 1 is characterized by white hair, very pale skin, and light-colored irises. Type 2 is typically less severe than type 1; the skin is usually a creamy white color and hair may be light yellow, blond, or light brown. Type 3 includes a form of albinism called rufous oculocutaneous albinism, which usually affects dark-skinned people. Affected individuals have reddish-brown skin, ginger or red hair, and hazel or brown irises. Type 3 is often associated with milder vision abnormalities than the other forms of oculocutaneous albinism. Type 4 has signs and symptoms similar to those seen with type 2. Because their features overlap, the four types of oculocutaneous albinism are most accurately distinguished by their genetic cause.
Albinism, ocular, with sensorineural deafness
MedGen UID:
400230
Concept ID:
C1863198
Disease or Syndrome
Ocular albinism is a genetic condition that primarily affects the eyes. This condition reduces the coloring (pigmentation) of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue at the back of the eye. Pigmentation in the eye is essential for normal vision. Ocular albinism is characterized by severely impaired sharpness of vision (visual acuity) and problems with combining vision from both eyes to perceive depth (stereoscopic vision). Although the vision loss is permanent, it does not worsen over time. Other eye abnormalities associated with this condition include rapid, involuntary eye movements (nystagmus); eyes that do not look in the same direction (strabismus); and increased sensitivity to light (photophobia). Many affected individuals also have abnormalities involving the optic nerves, which carry visual information from the eye to the brain. Unlike some other forms of albinism, ocular albinism does not significantly affect the color of the skin and hair. People with this condition may have a somewhat lighter complexion than other members of their family, but these differences are usually minor. The most common form of ocular albinism is known as the Nettleship-Falls type or type 1. Other forms of ocular albinism are much rarer and may be associated with additional signs and symptoms, such as hearing loss.
Yemenite deaf-blind hypopigmentation syndrome
MedGen UID:
355712
Concept ID:
C1866425
Disease or Syndrome
Griscelli syndrome type 2
MedGen UID:
357030
Concept ID:
C1868679
Disease or Syndrome
Griscelli syndrome is an inherited condition characterized by unusually light (hypopigmented) skin and light silvery-gray hair starting in infancy. Researchers have identified three types of this disorder, which are distinguished by their genetic cause and pattern of signs and symptoms. Griscelli syndrome type 1 involves severe problems with brain function in addition to the distinctive skin and hair coloring. Affected individuals typically have delayed development, intellectual disability, seizures, weak muscle tone (hypotonia), and eye and vision abnormalities. Another condition called Elejalde disease has many of the same signs and symptoms, and some researchers have proposed that Griscelli syndrome type 1 and Elejalde disease are actually the same disorder. People with Griscelli syndrome type 2 have immune system abnormalities in addition to having hypopigmented skin and hair. Affected individuals are prone to recurrent infections. They also develop an immune condition called hemophagocytic lymphohistiocytosis (HLH), in which the immune system produces too many activated immune cells called T-lymphocytes and macrophages (histiocytes). Overactivity of these cells can damage organs and tissues throughout the body, causing life-threatening complications if the condition is untreated. People with Griscelli syndrome type 2 do not have the neurological abnormalities of type 1. Unusually light skin and hair coloring are the only features of Griscelli syndrome type 3. People with this form of the disorder do not have neurological abnormalities or immune system problems.
Waardenburg syndrome type 2E
MedGen UID:
398476
Concept ID:
C2700405
Disease or Syndrome
Waardenburg syndrome type 2 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (review by Read and Newton, 1997). Individuals with WS type 2E, which is caused by mutation in the SOX10 gene (602229), may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; 193510). For a description of other clinical variants of Waardenburg syndrome, see WS1 (193500), WS3 (148820), and WS4 (277580).
Hermansky-Pudlak syndrome 1
MedGen UID:
419514
Concept ID:
C2931875
Disease or Syndrome
Hermansky-Pudlak syndrome (HPS) is a multisystem disorder characterized by: tyrosinase-positive oculocutaneous albinism; a bleeding diathesis resulting from a platelet storage pool deficiency; and, in some cases, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. The albinism is characterized by: hypopigmentation of the skin and hair; and ocular findings of reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in easy bruising, frequent epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects are associated primarily with HPS-2.
Hermansky-Pudlak syndrome 7
MedGen UID:
481386
Concept ID:
C3279756
Disease or Syndrome
Hermansky-Pudlak syndrome (HPS) is a multisystem disorder characterized by: tyrosinase-positive oculocutaneous albinism; a bleeding diathesis resulting from a platelet storage pool deficiency; and, in some cases, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. The albinism is characterized by: hypopigmentation of the skin and hair; and ocular findings of reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in easy bruising, frequent epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects are associated primarily with HPS-2.
Hermansky-Pudlak syndrome 4
MedGen UID:
483344
Concept ID:
C3484357
Disease or Syndrome
Hermansky-Pudlak syndrome (HPS) is a multisystem disorder characterized by: tyrosinase-positive oculocutaneous albinism; a bleeding diathesis resulting from a platelet storage pool deficiency; and, in some cases, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. The albinism is characterized by: hypopigmentation of the skin and hair; and ocular findings of reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in easy bruising, frequent epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects are associated primarily with HPS-2.
Albinism deafness syndrome
MedGen UID:
375573
Concept ID:
C1845068
Disease or Syndrome

Recent clinical studies

Etiology

Bai J, Xie X, Lei Y, An G, He L, Lv X
Mol Med Rep 2014 Jul;10(1):491-5. Epub 2014 Apr 15 doi: 10.3892/mmr.2014.2154. [Epub ahead of print] PMID: 24736838
Yan N, Liao X, Cai SP, Lan C, Wang Y, Zhou X, Yin Y, Yu W, Liu X
PLoS One 2012;7(8):e43177. Epub 2012 Aug 20 doi: 10.1371/journal.pone.0043177. PMID: 22916221Free PMC Article
Ohtsubo M, Sato M, Hikoya A, Hosono K, Minoshima S, Hotta Y
Jpn J Ophthalmol 2010 Nov;54(6):624-6. PMID: 21348135
Renugadevi K, Sil AK, Perumalsamy V, Sundaresan P
Mol Vis 2010 Aug 9;16:1514-24. PMID: 20806075Free PMC Article
Xiao X, Zhang Q
Am J Med Genet A 2009 Aug;149A(8):1786-8. doi: 10.1002/ajmg.a.32818. PMID: 19610097

Diagnosis

Brecelj J
Doc Ophthalmol 2014 Oct;129(2):71-84. Epub 2014 Jun 25 doi: 10.1007/s10633-014-9448-8. [Epub ahead of print] PMID: 24962442
Sepúlveda-Vázquez HE, Villanueva-Mendoza C, Zenteno JC, Villegas-Ruiz V, Pelcastre-Luna E, García-Aguirre G
Int Ophthalmol 2014 Oct;34(5):1075-81. Epub 2014 Feb 14 doi: 10.1007/s10792-014-9912-1. [Epub ahead of print] PMID: 24526317
Cai CY, Zhu H, Shi W, Su L, Shi O, Cai CQ, Ling C, Li WD
Genet Mol Res 2013 Nov 18;12(4):5673-9. doi: 10.4238/2013.November.18.16. PMID: 24301936
Renugadevi K, Sil AK, Perumalsamy V, Sundaresan P
Mol Vis 2010 Aug 9;16:1514-24. PMID: 20806075Free PMC Article
Kubal A, Dagnelie G, Goldberg M
J AAPOS 2009 Dec;13(6):610-2. doi: 10.1016/j.jaapos.2009.09.015. PMID: 20006830

Therapy

Goshima Y, Nakamura F, Masukawa D, Chen S, Koga M
J Pharmacol Sci 2014;126(1):14-20. Epub 2014 Sep 4 [Epub ahead of print] PMID: 25185585
Sepúlveda-Vázquez HE, Villanueva-Mendoza C, Zenteno JC, Villegas-Ruiz V, Pelcastre-Luna E, García-Aguirre G
Int Ophthalmol 2014 Oct;34(5):1075-81. Epub 2014 Feb 14 doi: 10.1007/s10792-014-9912-1. [Epub ahead of print] PMID: 24526317
Brown S
Binocul Vis Strabismus Q 2008;23(3):143-4. PMID: 18811587
Carrozzo R, Arrigo G, Rossi E, Bardoni B, Cammarata M, Gandullia P, Gatti R, Zuffardi O
Am J Med Genet 1997 Oct 31;72(3):329-34. PMID: 9332664
Lang GE, Rott HD, Pfeiffer RA
Ophthalmic Paediatr Genet 1990 Dec;11(4):265-71. PMID: 2096354

Prognosis

Oetting WS, Pietsch J, Brott MJ, Savage S, Fryer JP, Summers CG, King RA
Am J Med Genet A 2009 Mar;149A(3):466-9. doi: 10.1002/ajmg.a.32654. PMID: 19208379
Wang Y, Guo X, Wei A, Zhu W, Li W, Lian S
Eur J Ophthalmol 2009 Jan-Feb;19(1):124-8. PMID: 19123159
Iannaccone A, Gallaher KT, Buchholz J, Jennings BJ, Neitz M, Sidjanin DJ
Mol Vis 2007 Oct 2;13:1856-61. PMID: 17960122
Rosenberg T, Schwartz M
Eur J Hum Genet 1998 Nov-Dec;6(6):570-7. doi: 10.1038/sj.ejhg.5200226. PMID: 9887374
Charles SJ, Green JS, Grant JW, Yates JR, Moore AT
Br J Ophthalmol 1993 Apr;77(4):222-7. PMID: 8494858Free PMC Article

Clinical prediction guides

Bai J, Xie X, Lei Y, An G, He L, Lv X
Mol Med Rep 2014 Jul;10(1):491-5. Epub 2014 Apr 15 doi: 10.3892/mmr.2014.2154. [Epub ahead of print] PMID: 24736838
Sepúlveda-Vázquez HE, Villanueva-Mendoza C, Zenteno JC, Villegas-Ruiz V, Pelcastre-Luna E, García-Aguirre G
Int Ophthalmol 2014 Oct;34(5):1075-81. Epub 2014 Feb 14 doi: 10.1007/s10792-014-9912-1. [Epub ahead of print] PMID: 24526317
Xiao X, Zhang Q
Am J Med Genet A 2009 Aug;149A(8):1786-8. doi: 10.1002/ajmg.a.32818. PMID: 19610097
Oetting WS, Pietsch J, Brott MJ, Savage S, Fryer JP, Summers CG, King RA
Am J Med Genet A 2009 Mar;149A(3):466-9. doi: 10.1002/ajmg.a.32654. PMID: 19208379
Wang Y, Guo X, Wei A, Zhu W, Li W, Lian S
Eur J Ophthalmol 2009 Jan-Feb;19(1):124-8. PMID: 19123159

Recent systematic reviews

Filloux FM, Hoffman RO, Viskochil DH, Jungbluth H, Creel DJ
J Pediatr Ophthalmol Strabismus 2014 Jul 1;51(4):214-20. Epub 2014 Apr 30 doi: 10.3928/01913913-20140423-02. [Epub ahead of print] PMID: 24779424

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