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Undetectable electroretinogram

MedGen UID:
383742
Concept ID:
C1855685
Finding
Synonyms: Abolished electroretinogram (ERG); Absent electroretinogram; Extinguished electroretinogram
 
HPO: HP:0000550

Definition

Lack of any response to stimulation upon electroretinography. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVUndetectable electroretinogram

Conditions with this feature

Bifunctional peroxisomal enzyme deficiency
MedGen UID:
137982
Concept ID:
C0342870
Pathologic Function
D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (264470), caused by mutation in the ACOX1 gene (609751) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD; 300100), Zellweger cerebrohepatorenal syndrome (see 214100) and neonatal adrenoleukodystrophy (NALD; see 601539) (Watkins et al., 1995). DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1; 233400). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.
Neuronal ceroid lipofuscinosis 3
MedGen UID:
155549
Concept ID:
C0751383
Disease or Syndrome
The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a 'fingerprint' profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with CLN3 (Mole et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730).
Usher syndrome type 1
MedGen UID:
292820
Concept ID:
C1568247
Disease or Syndrome
Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). Unless fitted with a cochlear implant, individuals do not typically develop speech. RP, a progressive, bilateral, symmetric degeneration of rod and cone functions of the retina, develops in adolescence, resulting in progressively constricted visual fields and impaired visual acuity.
Retinitis pigmentosa 27
MedGen UID:
320323
Concept ID:
C1834329
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the NRL gene.
Retinitis pigmentosa 32
MedGen UID:
322781
Concept ID:
C1835927
Disease or Syndrome
A retinitis pigmentosa that has material basis in variation in the chromosome region 1p21.3-p13.3.
Posterior column ataxia-retinitis pigmentosa syndrome
MedGen UID:
324636
Concept ID:
C1836916
Disease or Syndrome
Posterior column ataxia with retinitis pigmentosa (AXPC1) is an autosomal recessive neurologic disorder characterized by childhood-onset retinitis pigmentosa and later onset of gait ataxia due to sensory loss (summary by Ishiura et al., 2011).
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
MedGen UID:
324684
Concept ID:
C1837073
Disease or Syndrome
Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) is characterized by postnatal growth deficiency resulting in profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction (summary by Hoover-Fong et al., 2014). Yamamoto et al. (2014) reviewed 16 reported cases of SMDCRD, noting that all affected individuals presented uniform skeletal findings, with rhizomelia and bowed lower limbs observed in the first year of life, whereas retinal dystrophy had a more variable age of onset. There was severe disproportionate short stature, with a final height of less than 100 cm; scoliosis was usually mild. Visual loss was progressive, with stabilization in adolescence.
Leber congenital amaurosis 9
MedGen UID:
325277
Concept ID:
C1837873
Disease or Syndrome
Early-onset neurodegeneration in the human retina can lead to Leber congenital amaurosis (LCA), the most severe human form of inherited photoreceptor-neuron degeneration resulting in congenital blindness, with an incidence of approximately 1 in 80,000 (summary by Koenekoop et al., 2012). NMNAT1 mutations have been observed to cause severe and rapidly progressive macular degeneration, leading to severe central atrophy with an appearance of congenital macular coloboma in the neonatal period, as well as an unusual early-onset atrophy of the optic nerve (Perrault et al., 2012). Some patients present with later onset and milder phenotype than typical LCA (Kumaran et al., 2021). For a general discussion of the phenotypic and genetic heterogeneity in Leber congenital amaurosis, see LCA1 (204000).
Retinitis pigmentosa 14
MedGen UID:
325056
Concept ID:
C1838603
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the TULP1 gene.
Retinitis pigmentosa 12
MedGen UID:
374019
Concept ID:
C1838647
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the CRB1 gene.
X-linked intellectual disability-retinitis pigmentosa syndrome
MedGen UID:
336862
Concept ID:
C1845136
Disease or Syndrome
X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.
Senior-loken syndrome 3
MedGen UID:
335569
Concept ID:
C1846980
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.\n\nNephronophthisis 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.\n\nLeber 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.
Enhanced S-cone syndrome
MedGen UID:
341446
Concept ID:
C1849394
Disease or Syndrome
An autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. Characteristics include visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration.
Saldino-Mainzer syndrome
MedGen UID:
341455
Concept ID:
C1849437
Disease or Syndrome
Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).
Neuronal ceroid lipofuscinosis 1
MedGen UID:
340540
Concept ID:
C1850451
Disease or Syndrome
The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD). The patterns most often observed in CLN2 and CLN3 are 'curvilinear' and 'fingerprint' profiles, respectively. CLN4, CLN5, CLN6, CLN7, and CLN8 show mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). Zeman and Dyken (1969) referred to these conditions as the 'neuronal ceroid lipofuscinoses.' Goebel (1995) provided a comprehensive review of the NCLs and noted that they are possibly the most common group of neurodegenerative diseases in children. Mole et al. (2005) provided a detailed clinical and genetic review of the neuronal ceroid lipofuscinoses. Genetic Heterogeneity of Neuronal Ceroid Lipofuscinosis See also CLN2 (204500), caused by mutation in the TPP1 gene (607998) on chromosome 11p15; CLN3 (204200), caused by mutation in the CLN3 gene (607042) on 16p12; CLN4 (162350), caused by mutation in the DNAJC5 gene (611203) on 20q13; CLN5 (256731), caused by mutation in the CLN5 gene (608102) on 13q22; CLN6A (601780) and CLN6B (204300), both caused by mutation in the CLN6 gene (606725) on 15q21; CLN7 (610951), caused by mutation in the MFSD8 gene (611124) on 4q28; CLN8 (600143) and the Northern epilepsy variant of CLN8 (610003), both caused by mutation in the CLN8 gene (607837) on 8p23; CLN10 (610127), caused by mutation in the CTSD gene (116840) on 11p15; CLN11 (614706), caused by mutation in the GRN gene (138945) on 17q21; CLN13 (615362), caused by mutation in the CTSF gene (603539) on 11q13; and CLN14 (611726), caused by mutation in the KCTD7 gene (611725) on 7q11. CLN9 (609055) has not been molecularly characterized. A disorder that was formerly designated neuronal ceroid lipofuscinosis-12 (CLN12) is now considered to be a variable form of Kufor-Rakeb syndrome (KRS; 606693).
Leber congenital amaurosis 6
MedGen UID:
344245
Concept ID:
C1854260
Congenital Abnormality
Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009). For a general description and a discussion of genetic heterogeneity of LCA, see 204000.
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.
Leber congenital amaurosis 5
MedGen UID:
388031
Concept ID:
C1858301
Disease or Syndrome
Leber congenital amaurosis, also known as LCA, is an eye disorder that is present from birth (congenital). This condition primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning at birth or shortly afterward. The visual impairment tends to be severe and may worsen over time.\n\nLeber congenital amaurosis is also associated with other vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). The pupils, which usually expand and contract in response to the amount of light entering the eye, do not react normally to light. Instead, they expand and contract more slowly than normal, or they may not respond to light at all.\n\nA specific behavior called Franceschetti's oculo-digital sign is characteristic of Leber congenital amaurosis. This sign consists of affected individuals poking, pressing, and rubbing their eyes with a knuckle or finger. Poking their eyes often results in the sensation of flashes of light called phosphenes. Researchers suspect that this behavior may contribute to deep-set eyes in affected children.\n\nIn very rare cases, delayed development and intellectual disability have been reported in people with the features of Leber congenital amaurosis. Because of the visual loss, affected children may become isolated. Providing children with opportunities to play, hear, touch, understand and other early educational interventions may prevent developmental delays in children with Leber congenital amaurosis.\n\nAt least 20 genetic types of Leber congenital amaurosis have been described. The types are distinguished by their genetic cause, patterns of vision loss, and related eye abnormalities.
Retinitis pigmentosa 25
MedGen UID:
350427
Concept ID:
C1864446
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the EYS gene.
Retinitis pigmentosa 36
MedGen UID:
351175
Concept ID:
C1864621
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRCD gene.
Neuronal ceroid lipofuscinosis 2
MedGen UID:
406281
Concept ID:
C1876161
Disease or Syndrome
The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure. The lipopigment pattern seen most often in CLN2 consists of 'curvilinear' profiles (Mole et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730).
Retinitis pigmentosa 41
MedGen UID:
383126
Concept ID:
C2677516
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the PROM1 gene.
Leber congenital amaurosis 14
MedGen UID:
442375
Concept ID:
C2750063
Disease or Syndrome
Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997). For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000.
Leber congenital amaurosis 7
MedGen UID:
462542
Concept ID:
C3151192
Disease or Syndrome
Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009). For a general description and a discussion of genetic heterogeneity of LCA, see 204000.
Leber congenital amaurosis 8
MedGen UID:
462552
Concept ID:
C3151202
Disease or Syndrome
Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009). For a general description and a discussion of genetic heterogeneity of LCA, see 204000.
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
MedGen UID:
462869
Concept ID:
C3151519
Disease or Syndrome
An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.
Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome
MedGen UID:
463309
Concept ID:
C3151959
Disease or Syndrome
Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome is characterized by onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus.
Joubert syndrome 22
MedGen UID:
816608
Concept ID:
C3810278
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.
Retinitis pigmentosa 69
MedGen UID:
862749
Concept ID:
C4014312
Disease or Syndrome
Retinitis pigmentosa (RP), also designated rod-cone dystrophy, is characterized by initial night blindness due to rod dysfunction, with subsequent progressive constriction of visual fields, abnormal color vision, and eventual loss of central vision due to cone photoreceptor involvement (summary by El Shamieh et al., 2014). For a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis
MedGen UID:
1780157
Concept ID:
C5543257
Disease or Syndrome
SHILCA is characterized by early-onset retinal degeneration in association with sensorineural hearing loss, short stature, vertebral anomalies, and epiphyseal dysplasia, as well as motor and intellectual delay. Delayed myelination, leukoencephalopathy, and hypoplasia of the corpus callosum and cerebellum have been observed on brain MRI (Bedoni et al., 2020).
Retinitis pigmentosa 93
MedGen UID:
1810905
Concept ID:
C5676970
Disease or Syndrome
Retinitis pigmentosa-93 (RP93) is characterized by mild to moderate rod-cone dystrophy with onset in the second or third decade of life. Patients have constricted visual fields with macular sparing and show mildly reduced visual acuity with mild to high myopia (Mejecase et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.

Professional guidelines

PubMed

Ba-Abbad R, Robson AG, Mahroo OA, Wright G, Schiff E, Duignan ES, Michaelides M, Arno G, Webster AR
Eye (Lond) 2021 May;35(5):1482-1489. Epub 2020 Jul 17 doi: 10.1038/s41433-020-1045-3. PMID: 32681094Free PMC Article
Uyhazi KE, Aravand P, Bell BA, Wei Z, Leo L, Serrano LW, Pearson DJ, Shpylchak I, Pham J, Vasireddy V, Bennett J, Aleman TS
Invest Ophthalmol Vis Sci 2020 May 11;61(5):30. doi: 10.1167/iovs.61.5.30. PMID: 32428231Free PMC Article
Nicholson B, Noble J, Forooghian F, Meyerle C
Surv Ophthalmol 2013 Mar-Apr;58(2):103-26. doi: 10.1016/j.survophthal.2012.07.004. PMID: 23410821Free PMC Article

Recent clinical studies

Etiology

Georgiou M, Robson AG, Jovanovic K, Guimarães TAC, Ali N, Pontikos N, Uwaydat SH, Mahroo OA, Cheetham ME, Webster AR, Hardcastle AJ, Michaelides M
Ophthalmology 2023 Apr;130(4):413-422. Epub 2022 Nov 22 doi: 10.1016/j.ophtha.2022.11.015. PMID: 36423731Free PMC Article
Brunetti-Pierri R, Karali M, Melillo P, Di Iorio V, De Benedictis A, Iaccarino G, Testa F, Banfi S, Simonelli F
Int J Mol Sci 2021 Feb 7;22(4) doi: 10.3390/ijms22041681. PMID: 33562422Free PMC Article
Lie H, Wang G, Liu X, Meng X, Long Y, Ren J, Yang L, Fujinami-Yokokawa Y, Kurihara T, Tsubota K, Fujinami K, Li S
Ophthalmic Genet 2021 Apr;42(2):144-149. Epub 2020 Dec 29 doi: 10.1080/13816810.2020.1861307. PMID: 33372566
Hirakata T, Fujinami K, Saito W, Kanda A, Hirakata A, Ishida S, Murakami A, Tsunoda K, Miyake Y
Jpn J Ophthalmol 2021 Jan;65(1):42-53. Epub 2020 Nov 12 doi: 10.1007/s10384-020-00780-x. PMID: 33180210
Renner AB, Kellner U, Cropp E, Preising MN, MacDonald IM, van den Hurk JA, Cremers FP, Foerster MH
Ophthalmology 2006 Nov;113(11):2066.e1-10. Epub 2006 Aug 28 doi: 10.1016/j.ophtha.2006.05.045. PMID: 16935340

Diagnosis

Georgiou M, Robson AG, Jovanovic K, Guimarães TAC, Ali N, Pontikos N, Uwaydat SH, Mahroo OA, Cheetham ME, Webster AR, Hardcastle AJ, Michaelides M
Ophthalmology 2023 Apr;130(4):413-422. Epub 2022 Nov 22 doi: 10.1016/j.ophtha.2022.11.015. PMID: 36423731Free PMC Article
Sakti DH, Cornish EE, Mustafic N, Zaheer A, Retsas S, Rajagopalan S, Chung CW, Ewans L, McCluskey P, Nash BM, Jamieson RV, Grigg JR
Ophthalmic Genet 2021 Dec;42(6):706-716. Epub 2021 Jul 22 doi: 10.1080/13816810.2021.1955278. PMID: 34289798
Uyhazi KE, Aravand P, Bell BA, Wei Z, Leo L, Serrano LW, Pearson DJ, Shpylchak I, Pham J, Vasireddy V, Bennett J, Aleman TS
Invest Ophthalmol Vis Sci 2020 May 11;61(5):30. doi: 10.1167/iovs.61.5.30. PMID: 32428231Free PMC Article
Nicholson B, Noble J, Forooghian F, Meyerle C
Surv Ophthalmol 2013 Mar-Apr;58(2):103-26. doi: 10.1016/j.survophthal.2012.07.004. PMID: 23410821Free PMC Article
Hrynchak PK
Optom Vis Sci 2000 May;77(5):236-43. doi: 10.1097/00006324-200005000-00010. PMID: 10831213

Therapy

Wright GA, Georgiou M, Robson AG, Ali N, Kalhoro A, Holthaus SK, Pontikos N, Oluonye N, de Carvalho ER, Neveu MM, Weleber RG, Michaelides M
Ophthalmol Retina 2020 Apr;4(4):433-445. Epub 2019 Nov 13 doi: 10.1016/j.oret.2019.11.005. PMID: 31926949Free PMC Article
Oner A, Gonen ZB, Sinim N, Cetin M, Ozkul Y
Stem Cell Res Ther 2016 Dec 1;7(1):178. doi: 10.1186/s13287-016-0432-y. PMID: 27906070Free PMC Article
Yaguchi Y, Katagiri S, Fukushima Y, Yokoi T, Nishina S, Kondo M, Azuma N
Sci Rep 2016 Jul 26;6:30523. doi: 10.1038/srep30523. PMID: 27456314Free PMC Article
Fisher AC, McCulloch DL, Borchert MS, Garcia-Filion P, Fink C, Eleuteri A, Simpson DM
Doc Ophthalmol 2015 Aug;131(1):25-34. Epub 2015 Mar 12 doi: 10.1007/s10633-015-9493-y. PMID: 25761929
Jammoul F, Wang Q, Nabbout R, Coriat C, Duboc A, Simonutti M, Dubus E, Craft CM, Ye W, Collins SD, Dulac O, Chiron C, Sahel JA, Picaud S
Ann Neurol 2009 Jan;65(1):98-107. doi: 10.1002/ana.21526. PMID: 19194884Free PMC Article

Prognosis

Georgiou M, Robson AG, Jovanovic K, Guimarães TAC, Ali N, Pontikos N, Uwaydat SH, Mahroo OA, Cheetham ME, Webster AR, Hardcastle AJ, Michaelides M
Ophthalmology 2023 Apr;130(4):413-422. Epub 2022 Nov 22 doi: 10.1016/j.ophtha.2022.11.015. PMID: 36423731Free PMC Article
Uyhazi KE, Aravand P, Bell BA, Wei Z, Leo L, Serrano LW, Pearson DJ, Shpylchak I, Pham J, Vasireddy V, Bennett J, Aleman TS
Invest Ophthalmol Vis Sci 2020 May 11;61(5):30. doi: 10.1167/iovs.61.5.30. PMID: 32428231Free PMC Article
Tsang SH, Sharma T
Adv Exp Med Biol 2018;1085:131-137. doi: 10.1007/978-3-319-95046-4_26. PMID: 30578499
Hrynchak PK
Optom Vis Sci 2000 May;77(5):236-43. doi: 10.1097/00006324-200005000-00010. PMID: 10831213
Shirao Y, Kawasaki K
Prog Retin Eye Res 1998 Jan;17(1):59-76. doi: 10.1016/s1350-9462(97)00005-0. PMID: 9537795

Clinical prediction guides

Georgiou M, Robson AG, Jovanovic K, Guimarães TAC, Ali N, Pontikos N, Uwaydat SH, Mahroo OA, Cheetham ME, Webster AR, Hardcastle AJ, Michaelides M
Ophthalmology 2023 Apr;130(4):413-422. Epub 2022 Nov 22 doi: 10.1016/j.ophtha.2022.11.015. PMID: 36423731Free PMC Article
Brunetti-Pierri R, Karali M, Melillo P, Di Iorio V, De Benedictis A, Iaccarino G, Testa F, Banfi S, Simonelli F
Int J Mol Sci 2021 Feb 7;22(4) doi: 10.3390/ijms22041681. PMID: 33562422Free PMC Article
Hirakata T, Fujinami K, Saito W, Kanda A, Hirakata A, Ishida S, Murakami A, Tsunoda K, Miyake Y
Jpn J Ophthalmol 2021 Jan;65(1):42-53. Epub 2020 Nov 12 doi: 10.1007/s10384-020-00780-x. PMID: 33180210
Uyhazi KE, Aravand P, Bell BA, Wei Z, Leo L, Serrano LW, Pearson DJ, Shpylchak I, Pham J, Vasireddy V, Bennett J, Aleman TS
Invest Ophthalmol Vis Sci 2020 May 11;61(5):30. doi: 10.1167/iovs.61.5.30. PMID: 32428231Free PMC Article
Renner AB, Kellner U, Cropp E, Preising MN, MacDonald IM, van den Hurk JA, Cremers FP, Foerster MH
Ophthalmology 2006 Nov;113(11):2066.e1-10. Epub 2006 Aug 28 doi: 10.1016/j.ophtha.2006.05.045. PMID: 16935340

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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