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Chorioretinal coloboma

MedGen UID:
66820
Concept ID:
C0240896
Congenital Abnormality
Synonyms: Chorioretinal colobomas; Choroidoretinal coloboma; Coloboma, chorioretinal; Coloboma, retinochoroidal
SNOMED CT: Coloboma of fundus (39302008); Fundus coloboma (39302008)
 
HPO: HP:0000567

Definition

Absence of a region of the retina, retinal pigment epithelium, and choroid. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChorioretinal coloboma

Conditions with this feature

Congenital ocular coloboma
MedGen UID:
1046
Concept ID:
C0009363
Congenital Abnormality
Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in one of several parts of the eye, including the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or the optic nerves, which carry information from the eyes to the brain.\n\nColobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision. Colobomas affecting the iris, which result in a "keyhole" appearance of the pupil, generally do not lead to vision loss. Colobomas involving the retina result in vision loss in specific parts of the visual field. Large retinal colobomas or those affecting the optic nerve can cause low vision, which means vision loss that cannot be completely corrected with glasses or contact lenses.\n\nSome people with coloboma also have a condition called microphthalmia. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with coloboma may also have other eye abnormalities, including clouding of the lens of the eye (cataract), increased pressure inside the eye (glaucoma) that can damage the optic nerve, vision problems such as nearsightedness (myopia), involuntary back-and-forth eye movements (nystagmus), or separation of the retina from the back of the eye (retinal detachment).\n\nColobomas involving the eyeball should be distinguished from gaps that occur in the eyelids. While these eyelid gaps are also called colobomas, they arise from abnormalities in different structures during early development.\n\nSome individuals have coloboma as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When coloboma occurs by itself, it is described as nonsyndromic or isolated.
Focal dermal hypoplasia
MedGen UID:
42055
Concept ID:
C0016395
Disease or Syndrome
Focal dermal hypoplasia is a multisystem disorder characterized primarily by involvement of the skin, skeletal system, eyes, and face. Skin manifestations present at birth include atrophic and hypoplastic areas of skin; cutis aplasia; fat nodules in the dermis manifesting as soft, yellow-pink cutaneous nodules; and pigmentary changes. Verrucoid papillomas of the skin and mucous membranes may appear later. The nails can be ridged, dysplastic, or hypoplastic; hair can be sparse or absent. Limb malformations include oligo-/syndactyly and split hand/foot. Developmental abnormalities of the eye can include anophthalmia/microphthalmia, iris and chorioretinal coloboma, and lacrimal duct abnormalities. Craniofacial findings can include facial asymmetry, notched alae nasi, cleft lip and palate, and pointed chin. Occasional findings include dental anomalies, abdominal wall defects, diaphragmatic hernia, and renal anomalies. Psychomotor development is usually normal; some individuals have cognitive impairment.
Hallermann-Streiff syndrome
MedGen UID:
5414
Concept ID:
C0018522
Disease or Syndrome
Hallermann-Streiff syndrome is characterized by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies, and proportionate short stature (Hallermann, 1948; Streiff, 1950; Francois, 1958). Mental retardation is present in a minority of cases (Gorlin et al., 1990).
Cat eye syndrome
MedGen UID:
120543
Concept ID:
C0265493
Disease or Syndrome
Cat eye syndrome (CES) is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development. A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited, and represents an inv dup(22)(q11).
11q partial monosomy syndrome
MedGen UID:
162878
Concept ID:
C0795841
Disease or Syndrome
Jacobsen syndrome (JBS) is a contiguous gene deletion syndrome with major clinical features of growth retardation, psychomotor retardation, trigonocephaly, divergent intermittent strabismus, epicanthus, telecanthus, broad nasal bridge, short nose with anteverted nostrils, carp-shaped upper lip, retrognathia, low-set dysmorphic ears, bilateral camptodactyly, hammertoes, and isoimmune thrombocytopenia (Fryns et al., 1986, Epstein, 1986).
Microphthalmia, syndromic 1
MedGen UID:
162898
Concept ID:
C0796016
Congenital Abnormality
Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait.
Holoprosencephaly 2
MedGen UID:
322517
Concept ID:
C1834877
Disease or Syndrome
A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene.
Joubert syndrome 2
MedGen UID:
334114
Concept ID:
C1842577
Disease or Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.
CHIME syndrome
MedGen UID:
341214
Concept ID:
C1848392
Disease or Syndrome
CHIME syndrome, also known as Zunich neuroectodermal syndrome, is an extremely rare autosomal recessive multisystem disorder clinically characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, and ear anomalies (CHIME). Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties (summary by Ng et al., 2012). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).
Upper limb defect-eye and ear abnormalities syndrome
MedGen UID:
376448
Concept ID:
C1848816
Disease or Syndrome
A rare multiple congenital anomalies syndrome characterized by upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.
Joubert syndrome 6
MedGen UID:
342805
Concept ID:
C1853153
Disease or Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.
Joubert syndrome with oculorenal defect
MedGen UID:
340930
Concept ID:
C1855675
Disease or Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.
Baraitser-Winter syndrome 1
MedGen UID:
340943
Concept ID:
C1855722
Disease or Syndrome
Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome is a multiple congenital anomaly syndrome characterized by typical craniofacial features and intellectual disability. Many (but not all) affected individuals have pachygyria that is predominantly frontal, wasting of the shoulder girdle muscles, and sensory impairment due to iris or retinal coloboma and/or sensorineural deafness. Intellectual disability, which is common but variable, is related to the severity of the brain malformations. Seizures, congenital heart defects, renal malformations, and gastrointestinal dysfunction are also common.
Mowat-Wilson syndrome
MedGen UID:
341067
Concept ID:
C1856113
Disease or Syndrome
Mowat-Wilson syndrome (MWS) is characterized by distinctive facial features (widely spaced eyes, broad eyebrows with a medial flare, low-hanging columella, prominent or pointed chin, open-mouth expression, and uplifted earlobes with a central depression), congenital heart defects with predilection for abnormalities of the pulmonary arteries and/or valves, Hirschsprung disease or chronic constipation, genitourinary anomalies (particularly hypospadias in males), and hypogenesis or agenesis of the corpus callosum. Most affected individuals have moderate-to-severe intellectual disability. Speech is typically limited to a few words or is absent, with relative preservation of receptive language skills. Growth restriction with microcephaly and seizure disorder are also common. Most affected people have a happy demeanor and a wide-based gait that can sometimes be confused with Angelman syndrome.
Craniosynostosis-intellectual disability-clefting syndrome
MedGen UID:
387829
Concept ID:
C1857472
Disease or Syndrome
A recessive syndrome characterized by craniosynostosis, intellectual disability, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose.
Temtamy syndrome
MedGen UID:
347474
Concept ID:
C1857512
Disease or Syndrome
Temtamy syndrome is a mental retardation/multiple congenital anomaly syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities, including abnormalities of the corpus callosum and thalamus (summary by Akizu et al., 2013).
Microcephalic osteodysplastic primordial dwarfism, type 3
MedGen UID:
349167
Concept ID:
C1859439
Disease or Syndrome
Colobomatous macrophthalmia-microcornea syndrome
MedGen UID:
400728
Concept ID:
C1865286
Disease or Syndrome
A rare genetic eye disease with characteristics of microcornea, coloboma of the iris and the optic disc, axial enlargement of the globe, staphyloma and severe myopia. Additional manifestations are mild cornea plana, iridocorneal angle abnormalities with elevation of intraocular pressure and shallow anterior chamber depth. Variable expressivity of the phenotype has been described, including unilateral or bilateral involvement or variable extent of coloboma among other features.
Deaf blind hypopigmentation syndrome, Yemenite type
MedGen UID:
355712
Concept ID:
C1866425
Disease or Syndrome
An exceedingly rare genetic disorder with characteristics of cutaneous pigmentation anomalies, ocular disorders and hearing loss. The syndrome was described in 1990 in two patients from the same Yemenite family. A brother and sister were described as having cutaneous patchy hypo and hyperpigmentation on the trunk and extremities, gray hair, white brows and lashes. Ocular manifestations were microcornea, coloboma and abnormalities of the anterior chamber of the eye. Both patients had severe hearing loss and dental abnormalities. Intelligence was reported to be normal. Their parents were unaffected and possibly consanguineous. The cause of this syndrome has not been determined. The inheritance pattern appears to be autosomal recessive.
Microphthalmia, isolated, with coloboma 5
MedGen UID:
369356
Concept ID:
C1968843
Disease or Syndrome
Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the SHH gene.
Oculoauricular syndrome
MedGen UID:
393758
Concept ID:
C2677500
Disease or Syndrome
Oculoauricular syndrome (OCACS) is characterized by complex ocular anomalies, including congenital cataract, anterior segment dysgenesis, iris coloboma, and early-onset retinal dystrophy, and dysplastic ears with abnormal external ear cartilage (summary by Gillespie et al., 2015).
Klippel-Feil syndrome 3, autosomal dominant
MedGen UID:
462317
Concept ID:
C3150967
Disease or Syndrome
Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004). For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (118100).
Chromosome 13q14 deletion syndrome
MedGen UID:
462652
Concept ID:
C3151302
Disease or Syndrome
The chromosome 13q14 deletion syndrome is characterized by retinoblastoma (180200), variable degrees of mental impairment, and characteristic facial features, including high forehead, prominent philtrum, and anteverted earlobes (summary by Caselli et al., 2007).
Hydrocephalus, nonsyndromic, autosomal recessive 2
MedGen UID:
767605
Concept ID:
C3554691
Disease or Syndrome
Congenital hydrocephalus-2 (HYC2) is a congenital disorder with onset in utero. Affected individuals have hydrocephalus with variably dilated ventricles and variable neurologic sequelae. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and nonspecific dysmorphic features, may be observed. Some patients die in utero, in infancy, or in early childhood, whereas others have long-term survival (summary by Shaheen et al., 2017). For a discussion of genetic heterogeneity of congenital hydrocephalus, see 233600.
Uveal coloboma-cleft lip and palate-intellectual disability
MedGen UID:
811762
Concept ID:
C3805432
Disease or Syndrome
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by uveal coloboma (typically bilateral) variably associated with cleft lip, palate and/or uvula, hearing impairment, and intellectual disability. The spectrum of eye involvement is also variable and includes iris coloboma extending to the choroid, disc, and/or macula, microphthalmia, cataract, and extraocular movement impairment.
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
MedGen UID:
813072
Concept ID:
C3806742
Disease or Syndrome
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.
Microphthalmia, isolated, with coloboma 10
MedGen UID:
909133
Concept ID:
C4225330
Disease or Syndrome
Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the RBP4 gene.
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
MedGen UID:
894574
Concept ID:
C4225424
Disease or Syndrome
A rare genetic eye disease with characteristics of optic disc anomalies (bilateral colobomatous optic discs, retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity.
Joint laxity, short stature, and myopia
MedGen UID:
1621331
Concept ID:
C4540020
Disease or Syndrome
A rare developmental defect with connective tissue involvement and characteristics of joint hyperextensibility and multiple dislocations of large joints, severe myopia and short stature. Other common features include retinal detachment, iris and chorioretinal coloboma, kyphoscoliosis and other spine deformities, pectus carinatum, talipes equinovarus and progressive hearing loss.
Townes-Brocks syndrome 1
MedGen UID:
1635275
Concept ID:
C4551481
Disease or Syndrome
Townes-Brocks syndrome (TBS) is characterized by the triad of imperforate anus (84%), dysplastic ears (87%; overfolded superior helices and preauricular tags; frequently associated with sensorineural and/or conductive hearing impairment [65%]), and thumb malformations (89%; triphalangeal thumbs, duplication of the thumb [preaxial polydactyly], and rarely hypoplasia of the thumbs). Renal impairment (42%), including end-stage renal disease (ESRD), may occur with or without structural abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, polycystic kidneys, vesicoutereral reflux). Congenital heart disease occurs in 25%. Foot malformations (52%; flat feet, overlapping toes) and genitourinary malformations (36%) are common. Intellectual disability occurs in approximately 10% of individuals. Rare features include iris coloboma, Duane anomaly, Arnold-Chiari malformation type 1, and growth retardation.
Joubert syndrome 1
MedGen UID:
1644883
Concept ID:
C4551568
Disease or Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.
COACH syndrome 2
MedGen UID:
1752166
Concept ID:
C5436837
Disease or Syndrome
COACH syndrome is classically defined as Cerebellar vermis hypoplasia, Oligophrenia, Ataxia, Colobomas, and Hepatic fibrosis (Verloes and Lambotte, 1989). Brain MRI demonstrates the molar tooth sign, which is a feature of Joubert syndrome. The disorder has been described as a Joubert syndrome-related disorder with liver disease (summary by Doherty et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of COACH syndrome, see 216360.
Ritscher-Schinzel syndrome 3
MedGen UID:
1744611
Concept ID:
C5436883
Disease or Syndrome
Ritscher-Schinzel syndrome-3 (RTSC3) is characterized by craniocerebellocardiac anomalies and severe postnatal growth restriction, as well as complicated skeletal malformations, including vertebral body hypoossification, sternal aplasia, and chondrodysplasia punctata. Other features include developmental delay, ocular anomalies, periventricular nodular heterotopia, and proteinuria (Kato et al., 2020). For a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 (220210).
Developmental delay, impaired speech, and behavioral abnormalities
MedGen UID:
1794167
Concept ID:
C5561957
Disease or Syndrome
Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) is characterized by global developmental delay apparent from early childhood. Intellectual disability can range from mild to severe. Additional variable features may include dysmorphic facial features, seizures, hypotonia, motor abnormalities such as Tourette syndrome or dystonia, and hearing loss (summary by Cousin et al., 2021).
Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies
MedGen UID:
1824061
Concept ID:
C5774288
Disease or Syndrome
Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies (NEDGEF) is an autosomal recessive disorder characterized by these features as well as hypotonia and global developmental delay with impaired intellectual development. The severity is variable, even within families. Death in early childhood has been reported in 1 family (Alsaif et al., 2021).
Polydactyly-macrocephaly syndrome
MedGen UID:
1847761
Concept ID:
C5882754
Disease or Syndrome
Polydactyly-macrocephaly syndrome (PDMCS) is characterized by postaxial polydactyly and progressive macrocephaly. Variable ocular anomalies have been observed, including microphthalmia and coloboma as well as delayed visual maturation. Neurodevelopmental anomalies are also present, including global developmental delay and autism or autistic traits, with prominent perivascular spaces on brain imaging (Harris et al., 2024).

Professional guidelines

PubMed

Kanwar K, Bashey S, Bohnsack BL, Drackley A, Ing A, Rahmani S, Ranaivo HR, McMullen P, Skol A, Yap K, Allegretti V, Rossen JL
Am J Med Genet A 2024 Aug;194(8):e63618. Epub 2024 Apr 10 doi: 10.1002/ajmg.a.63618. PMID: 38597178
Shah SP, Taylor AE, Sowden JC, Ragge N, Russell-Eggitt I, Rahi JS, Gilbert CE; Surveillance of Eye Anomalies Special Interest Group
Ophthalmology 2012 Feb;119(2):362-8. Epub 2011 Nov 4 doi: 10.1016/j.ophtha.2011.07.039. PMID: 22054996

Recent clinical studies

Etiology

Mirzayev I, Gündüz AK, Özalp Ateş FS, Tetik D
Eur J Ophthalmol 2023 Jan;33(1):104-111. Epub 2022 May 16 doi: 10.1177/11206721221100627. PMID: 35570796
Mirzayev I, Gündüz AK, Biçer Ö, Tarlan B
J Pediatr Ophthalmol Strabismus 2021 May-Jun;58(3):161-167. Epub 2021 May 1 doi: 10.3928/01913913-20210108-01. PMID: 34039153
Abouammoh MA, Alsulaiman SM, Gupta VS, Younis A, Chhablani J, Hussein A, Casella AM, Banker AS, Arevalo JF; King Khaled Eye Specialist Hospital (KKESH) International Collaborative Retina Study Group
Retina 2017 Oct;37(10):1942-1947. doi: 10.1097/IAE.0000000000001444. PMID: 28067725
Perez-Aytes A, Marin-Reina P, Boso V, Ledo A, Carey JC, Vento M
Eur J Med Genet 2017 Jan;60(1):16-21. Epub 2016 Sep 14 doi: 10.1016/j.ejmg.2016.09.014. PMID: 27639443
Vasavada VA, Dixit NV, Ravat FA, Praveen MR, Shah SK, Vasavada V, Vasavada AR, Trivedi RH
J Cataract Refract Surg 2009 Mar;35(3):519-28. doi: 10.1016/j.jcrs.2008.11.031. PMID: 19251147

Diagnosis

Mirzayev I, Gündüz AK, Özalp Ateş FS, Tetik D
Eur J Ophthalmol 2023 Jan;33(1):104-111. Epub 2022 May 16 doi: 10.1177/11206721221100627. PMID: 35570796
Parakh S, Das S, Maheshwari S, Luthra G, Luthra S
Indian J Ophthalmol 2022 Jul;70(7):2665-2666. doi: 10.4103/ijo.IJO_164_22. PMID: 35791195Free PMC Article
Mirzayev I, Gündüz AK, Biçer Ö, Tarlan B
J Pediatr Ophthalmol Strabismus 2021 May-Jun;58(3):161-167. Epub 2021 May 1 doi: 10.3928/01913913-20210108-01. PMID: 34039153
Abouammoh MA, Alsulaiman SM, Gupta VS, Younis A, Chhablani J, Hussein A, Casella AM, Banker AS, Arevalo JF; King Khaled Eye Specialist Hospital (KKESH) International Collaborative Retina Study Group
Retina 2017 Oct;37(10):1942-1947. doi: 10.1097/IAE.0000000000001444. PMID: 28067725
Sharma D, Murki S, Pratap T, Vasikarla M
BMJ Case Rep 2014 May 19;2014 doi: 10.1136/bcr-2014-203923. PMID: 24842361Free PMC Article

Therapy

Abouammoh MA, Alsulaiman SM, Gupta VS, Younis A, Chhablani J, Hussein A, Casella AM, Banker AS, Arevalo JF; King Khaled Eye Specialist Hospital (KKESH) International Collaborative Retina Study Group
Retina 2017 Oct;37(10):1942-1947. doi: 10.1097/IAE.0000000000001444. PMID: 28067725
Perez-Aytes A, Marin-Reina P, Boso V, Ledo A, Carey JC, Vento M
Eur J Med Genet 2017 Jan;60(1):16-21. Epub 2016 Sep 14 doi: 10.1016/j.ejmg.2016.09.014. PMID: 27639443
Ang GS, Simpson SA, Reddy AR
Am J Med Genet A 2008 Aug 1;146A(15):1963-6. doi: 10.1002/ajmg.a.32420. PMID: 18570296
Perez-Aytes A, Ledo A, Boso V, Sáenz P, Roma E, Poveda JL, Vento M
Am J Med Genet A 2008 Jan 1;146A(1):1-7. doi: 10.1002/ajmg.a.32117. PMID: 18074358
Melis D, Pia Sperandeo M, Perone L, Staiano A, Andria G, Sebastio G
Clin Dysmorphol 2006 Jan;15(1):13-18. doi: 10.1097/01.mcd.0000181602.70629.67. PMID: 16317301

Prognosis

Abdi F, Abdolalizadeh P, Sardarinia M, Gordiz A, Zarastvand F, Hemmati S, Mahmoudzadeh R
Ophthalmic Genet 2022 Aug;43(4):481-487. Epub 2022 Mar 18 doi: 10.1080/13816810.2022.2053996. PMID: 35300559
Vilboux T, Doherty DA, Glass IA, Parisi MA, Phelps IG, Cullinane AR, Zein W, Brooks BP, Heller T, Soldatos A, Oden NL, Yildirimli D, Vemulapalli M, Mullikin JC, Nisc Comparative Sequencing Program, Malicdan MCV, Gahl WA, Gunay-Aygun M
Genet Med 2017 Aug;19(8):875-882. Epub 2017 Jan 26 doi: 10.1038/gim.2016.204. PMID: 28125082
Abouammoh MA, Alsulaiman SM, Gupta VS, Younis A, Chhablani J, Hussein A, Casella AM, Banker AS, Arevalo JF; King Khaled Eye Specialist Hospital (KKESH) International Collaborative Retina Study Group
Retina 2017 Oct;37(10):1942-1947. doi: 10.1097/IAE.0000000000001444. PMID: 28067725
Sharma D, Murki S, Pratap T, Vasikarla M
BMJ Case Rep 2014 May 19;2014 doi: 10.1136/bcr-2014-203923. PMID: 24842361Free PMC Article
Vasavada VA, Dixit NV, Ravat FA, Praveen MR, Shah SK, Vasavada V, Vasavada AR, Trivedi RH
J Cataract Refract Surg 2009 Mar;35(3):519-28. doi: 10.1016/j.jcrs.2008.11.031. PMID: 19251147

Clinical prediction guides

Abdi F, Abdolalizadeh P, Sardarinia M, Gordiz A, Zarastvand F, Hemmati S, Mahmoudzadeh R
Ophthalmic Genet 2022 Aug;43(4):481-487. Epub 2022 Mar 18 doi: 10.1080/13816810.2022.2053996. PMID: 35300559
Mirzayev I, Gündüz AK, Biçer Ö, Tarlan B
J Pediatr Ophthalmol Strabismus 2021 May-Jun;58(3):161-167. Epub 2021 May 1 doi: 10.3928/01913913-20210108-01. PMID: 34039153
Uhumwangho OM, Jalali S
Eye (Lond) 2014 Jun;28(6):728-33. Epub 2014 Mar 28 doi: 10.1038/eye.2014.61. PMID: 24675580Free PMC Article
Vasavada VA, Dixit NV, Ravat FA, Praveen MR, Shah SK, Vasavada V, Vasavada AR, Trivedi RH
J Cataract Refract Surg 2009 Mar;35(3):519-28. doi: 10.1016/j.jcrs.2008.11.031. PMID: 19251147
Perez-Aytes A, Ledo A, Boso V, Sáenz P, Roma E, Poveda JL, Vento M
Am J Med Genet A 2008 Jan 1;146A(1):1-7. doi: 10.1002/ajmg.a.32117. PMID: 18074358

Supplemental Content

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    Practice guidelines

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      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

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