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Absent corneal reflex

MedGen UID:
78835
Concept ID:
C0278211
Finding
Synonym: Reflex, Corneal, Absent
SNOMED CT: Corneal reflex absent (78710008)
 
HPO: HP:0034252

Definition

Absence of the corneal blinking reflex, which normally induces involuntary blinking of the eyelids following contact of the cornea. The corneal blink reflex is caused by a loop between the trigeminal sensory nerves and the facial motor (VII) nerve innervation of the orbicularis oculi muscles. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbsent corneal reflex

Conditions with this feature

Hereditary sensory and autonomic neuropathy type 6
MedGen UID:
761278
Concept ID:
C3539003
Disease or Syndrome
Hereditary sensory and autonomic neuropathy type VI (HSAN6) is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection (summary by Edvardson et al., 2012). For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 (162400).
Stüve-Wiedemann syndrome 1
MedGen UID:
1803541
Concept ID:
C5676888
Disease or Syndrome
Stuve-Wiedemann syndrome is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, episodic hyperthermia, respiratory distress, and feeding difficulties usually resulting in early death (Dagoneau et al., 2004). See also 'classic' Schwartz-Jampel syndrome type 1 (SJS1; 255800), a phenotypically similar but genetically distinct disorder caused by mutation in the HSPG2 gene (142461) on chromosome 1p36. Genetic Heterogeneity of Stuve-Wiedemann Syndrome Stuve-Wiedemann syndrome-2 (STWS2; 619751) is caused by mutation in the IL6ST gene (600694) on chromosome 5q11.
Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay
MedGen UID:
1848439
Concept ID:
C5882675
Disease or Syndrome
Congenital cranial dysinnervation disorder with absent corneal reflex and developmental delay (CCDDRD) is an autosomal recessive disorder characterized by abnormal development of the proximal cranial sensory ganglia and nerves, mainly CN V (trigeminal nerve) and CN VIII (vestibulocochlear nerve). Affected individuals present at birth or in early infancy with corneal opacities due to absent blinking. Most patients also have sensorineural deafness associated with hypoplastic or malformed cochlea and hypoplasia or agenesis of CN VIII. Developmental delay with poor speech and autistic behavior are also present. Additional features may include expressionless face, feeding or chewing difficulties due to oromotor dysfunction, and dysmorphic facial features (Dupont et al., 2021; Sheth et al., 2023).

Professional guidelines

PubMed

Greer DM, Shemie SD, Lewis A, Torrance S, Varelas P, Goldenberg FD, Bernat JL, Souter M, Topcuoglu MA, Alexandrov AW, Baldisseri M, Bleck T, Citerio G, Dawson R, Hoppe A, Jacobe S, Manara A, Nakagawa TA, Pope TM, Silvester W, Thomson D, Al Rahma H, Badenes R, Baker AJ, Cerny V, Chang C, Chang TR, Gnedovskaya E, Han MK, Honeybul S, Jimenez E, Kuroda Y, Liu G, Mallick UK, Marquevich V, Mejia-Mantilla J, Piradov M, Quayyum S, Shrestha GS, Su YY, Timmons SD, Teitelbaum J, Videtta W, Zirpe K, Sung G
JAMA 2020 Sep 15;324(11):1078-1097. doi: 10.1001/jama.2020.11586. PMID: 32761206
Larson ST, Wilbur J
Am Fam Physician 2020 Jan 15;101(2):95-108. PMID: 31939642
Smania N, Picelli A, Munari D, Geroin C, Ianes P, Waldner A, Gandolfi M
Eur J Phys Rehabil Med 2010 Sep;46(3):423-38. PMID: 20927008

Recent clinical studies

Etiology

Dupont J, Vieira JP, Tavares ALT, Conceição CR, Khan S, Bertoli-Avella AM, Sousa AB
Clin Genet 2021 Apr;99(4):588-593. Epub 2021 Jan 20 doi: 10.1111/cge.13922. PMID: 33439489
Zhou F, Yang Z, Zhu W, Chen L, Song J, Quan K, Li S, Li P, Pan Z, Liu P, Mao Y
J Neurosurg 2018 Oct;129(4):973-983. Epub 2017 Dec 22 doi: 10.3171/2017.6.JNS163254. PMID: 29271707
Karkas A, Lamblin E, Meyer M, Gay E, Ternier J, Schmerber S
Otolaryngol Head Neck Surg 2014 Oct;151(4):675-80. Epub 2014 Aug 1 doi: 10.1177/0194599814545440. PMID: 25085321
Oluwayemi OI, Brown BJ, Oyedeji OA, Adegoke SA, Adebami OJ, Oyedeji GA
J Infect Dev Ctries 2013 Aug 15;7(8):600-7. doi: 10.3855/jidc.2769. PMID: 23949295
Bansal A, Singhi SC, Singhi PD, Khandelwal N, Ramesh S
Indian J Pediatr 2005 Jun;72(6):467-73. doi: 10.1007/BF02724422. PMID: 15985734

Diagnosis

Zhou F, Yang Z, Zhu W, Chen L, Song J, Quan K, Li S, Li P, Pan Z, Liu P, Mao Y
J Neurosurg 2018 Oct;129(4):973-983. Epub 2017 Dec 22 doi: 10.3171/2017.6.JNS163254. PMID: 29271707
Dalla Bella E, Rigamonti A, Mantero V, Morbin M, Saccucci S, Gellera C, Mora G, Lauria G
J Neurol Neurosurg Psychiatry 2014 Sep;85(9):1009-11. Epub 2014 Mar 3 doi: 10.1136/jnnp-2013-307416. PMID: 24591457
Oluwayemi OI, Brown BJ, Oyedeji OA, Adegoke SA, Adebami OJ, Oyedeji GA
J Infect Dev Ctries 2013 Aug 15;7(8):600-7. doi: 10.3855/jidc.2769. PMID: 23949295
Bansal A, Singhi SC, Singhi PD, Khandelwal N, Ramesh S
Indian J Pediatr 2005 Jun;72(6):467-73. doi: 10.1007/BF02724422. PMID: 15985734
Wijdicks EF, St Louis E
Neurology 1997 Nov;49(5):1342-6. doi: 10.1212/wnl.49.5.1342. PMID: 9371919

Therapy

Smith JL, Stevens DA
South Med J 1986 Apr;79(4):501-4. doi: 10.1097/00007611-198604000-00028. PMID: 3704711

Prognosis

Zhou F, Yang Z, Zhu W, Chen L, Song J, Quan K, Li S, Li P, Pan Z, Liu P, Mao Y
J Neurosurg 2018 Oct;129(4):973-983. Epub 2017 Dec 22 doi: 10.3171/2017.6.JNS163254. PMID: 29271707
Karkas A, Lamblin E, Meyer M, Gay E, Ternier J, Schmerber S
Otolaryngol Head Neck Surg 2014 Oct;151(4):675-80. Epub 2014 Aug 1 doi: 10.1177/0194599814545440. PMID: 25085321
Oluwayemi OI, Brown BJ, Oyedeji OA, Adegoke SA, Adebami OJ, Oyedeji GA
J Infect Dev Ctries 2013 Aug 15;7(8):600-7. doi: 10.3855/jidc.2769. PMID: 23949295
Bansal A, Singhi SC, Singhi PD, Khandelwal N, Ramesh S
Indian J Pediatr 2005 Jun;72(6):467-73. doi: 10.1007/BF02724422. PMID: 15985734
Wijdicks EF, St Louis E
Neurology 1997 Nov;49(5):1342-6. doi: 10.1212/wnl.49.5.1342. PMID: 9371919

Clinical prediction guides

Dupont J, Vieira JP, Tavares ALT, Conceição CR, Khan S, Bertoli-Avella AM, Sousa AB
Clin Genet 2021 Apr;99(4):588-593. Epub 2021 Jan 20 doi: 10.1111/cge.13922. PMID: 33439489
Zhou F, Yang Z, Zhu W, Chen L, Song J, Quan K, Li S, Li P, Pan Z, Liu P, Mao Y
J Neurosurg 2018 Oct;129(4):973-983. Epub 2017 Dec 22 doi: 10.3171/2017.6.JNS163254. PMID: 29271707
Oluwayemi OI, Brown BJ, Oyedeji OA, Adegoke SA, Adebami OJ, Oyedeji GA
J Infect Dev Ctries 2013 Aug 15;7(8):600-7. doi: 10.3855/jidc.2769. PMID: 23949295
Bansal A, Singhi SC, Singhi PD, Khandelwal N, Ramesh S
Indian J Pediatr 2005 Jun;72(6):467-73. doi: 10.1007/BF02724422. PMID: 15985734
Wijdicks EF, St Louis E
Neurology 1997 Nov;49(5):1342-6. doi: 10.1212/wnl.49.5.1342. PMID: 9371919

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