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Microcoria

MedGen UID:
1372399
Concept ID:
C4476808
Anatomical Abnormality
HPO: HP:0025492

Definition

A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMicrocoria

Conditions with this feature

Alexander disease
MedGen UID:
78724
Concept ID:
C0270726
Disease or Syndrome
Alexander disease, a progressive disorder of cerebral white matter caused by a heterozygous GFAP pathogenic variant, comprises a continuous clinical spectrum most recognizable in infants and children and a range of nonspecific neurologic manifestations in adults. This chapter discusses the spectrum of Alexander disease as four forms: neonatal, infantile, juvenile, and adult. The neonatal form begins in the first 30 days after birth with neurologic findings (e.g., hypotonia, hyperexcitability, myoclonus) and/or gastrointestinal manifestations (e.g., gastroesophageal reflux, vomiting, failure to thrive), followed by severe developmental delay and regression, seizures, megalencephaly, and typically death within two years. The infantile form is characterized by variable developmental issues: initially some have delayed or plateauing of acquisition of new skills, followed in some by a loss of gross and fine motor skills and language during in the first decade or in others a slow disease course that spans decades. Seizures, often triggered by illness, may be less frequent/severe than in the neonatal form. The juvenile form typically presents in childhood or adolescence with clinical and imaging features that overlap with the other forms. Manifestations in early childhood are milder than those in the infantile form (e.g., mild language delay may be the only developmental abnormality or, with language acquisition, hypophonia or nasal speech may alter the voice, often prior to appearance of other neurologic features). Vomiting and failure to thrive as well as scoliosis and autonomic dysfunction are common. The adult form is typically characterized by bulbar or pseudobulbar findings (palatal myoclonus, dysphagia, dysphonia, dysarthria or slurred speech), motor/gait abnormalities with pyramidal tract signs (spasticity, hyperreflexia, positive Babinski sign), or cerebellar abnormalities (ataxia, nystagmus, or dysmetria). Others may have hemiparesis or hemiplegia with a relapsing/remitting course or slowly progressive quadriparesis or quadriplegia. Other neurologic features can include sleep apnea, diplopia or disorders of extraocular motility, and autonomic dysfunction.
Congenital miosis
MedGen UID:
227002
Concept ID:
C1303009
Congenital Abnormality
Inherited congenital microcoria, also referred to as congenital miosis, is characterized by bilateral small pupils (diameter less than 2 mm) that result from an underdevelopment of the dilator pupillae muscle of the iris (Holth and Berner, 1923; Simpson and Parsons, 1989). Iris transillumination defects are a constant feature. The pupil dilates poorly or not at all in response to topically administered mydriatic drugs. The disorder is transmitted as an autosomal dominant trait with complete penetrance and is associated with goniodysgenesis and glaucoma (Tawara and Inomata, 1983; Mazzeo et al., 1986; Toulemont et al., 1995).
Pierson syndrome
MedGen UID:
373199
Concept ID:
C1836876
Disease or Syndrome
Pierson syndrome (PIERS) is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities, including microcoria and hypoplasia of the ciliary and pupillary muscles, as well as other anomalies. Many patients die early, and those who survive tend to show neurodevelopmental delay and visual loss (summary by Zenker et al., 2004). Mutations in the LAMB2 gene also cause nephrotic syndrome type 5 with or without mild ocular anomalies (NPHS5; 614199).
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.

Recent clinical studies

Etiology

Alshamrani AA, Magliyah M, Alkuraya FS, Alabdi L, Alfaadhel TA, Alsulaiman SM
Ophthalmol Retina 2024 Feb;8(2):155-162. Epub 2023 Sep 9 doi: 10.1016/j.oret.2023.08.022. PMID: 37678612
Angée C, Nedelec B, Erjavec E, Rozet JM, Fares Taie L
Genes (Basel) 2021 Apr 22;12(5) doi: 10.3390/genes12050624. PMID: 33922078Free PMC Article
AlTaisan A, Magliyah M, Abouammoh MA, Taskintuna I, Alzahrani Y, Chang E, Alsulaiman SM
Ophthalmic Surg Lasers Imaging Retina 2020 Nov 1;51(11):618-627. doi: 10.3928/23258160-20201104-03. PMID: 33231694
Ramprasad VL, Sripriya S, Ronnie G, Nancarrow D, Saxena S, Hemamalini A, Kumar D, Vijaya L, Kumaramanickavel G
Mol Vis 2005 Nov 3;11:934-40. PMID: 16288197
Toulemont PJ, Urvoy M, Coscas G, Lecallonnec A, Cuvilliers AF
Ophthalmology 1995 Feb;102(2):193-8. doi: 10.1016/s0161-6420(95)31036-6. PMID: 7862406

Diagnosis

Alshamrani AA, Magliyah M, Alkuraya FS, Alabdi L, Alfaadhel TA, Alsulaiman SM
Ophthalmol Retina 2024 Feb;8(2):155-162. Epub 2023 Sep 9 doi: 10.1016/j.oret.2023.08.022. PMID: 37678612
Hao L, Ma Z, Song C, Zhu S
BMC Ophthalmol 2022 May 2;22(1):201. doi: 10.1186/s12886-022-02422-x. PMID: 35501768Free PMC Article
Jeeva-Patel T, Lutchman C, Margolin E
Ophthalmology 2021 Apr;128(4):586. doi: 10.1016/j.ophtha.2020.11.006. PMID: 33745527
AlTaisan A, Magliyah M, Abouammoh MA, Taskintuna I, Alzahrani Y, Chang E, Alsulaiman SM
Ophthalmic Surg Lasers Imaging Retina 2020 Nov 1;51(11):618-627. doi: 10.3928/23258160-20201104-03. PMID: 33231694
Ramprasad VL, Sripriya S, Ronnie G, Nancarrow D, Saxena S, Hemamalini A, Kumar D, Vijaya L, Kumaramanickavel G
Mol Vis 2005 Nov 3;11:934-40. PMID: 16288197

Therapy

Lehnhardt A, Lama A, Amann K, Matejas V, Zenker M, Kemper MJ
Pediatr Nephrol 2012 May;27(5):865-8. Epub 2012 Jan 8 doi: 10.1007/s00467-011-2088-2. PMID: 22228401
Hyams SW, Neumann E
Am J Ophthalmol 1969 Aug;68(2):326-7. doi: 10.1016/0002-9394(69)94079-3. PMID: 5805256

Prognosis

Hao L, Ma Z, Song C, Zhu S
BMC Ophthalmol 2022 May 2;22(1):201. doi: 10.1186/s12886-022-02422-x. PMID: 35501768Free PMC Article
AlTaisan A, Magliyah M, Abouammoh MA, Taskintuna I, Alzahrani Y, Chang E, Alsulaiman SM
Ophthalmic Surg Lasers Imaging Retina 2020 Nov 1;51(11):618-627. doi: 10.3928/23258160-20201104-03. PMID: 33231694
Kulali F, Calkavur S, Basaran C, Serdaroglu E, Kose M, Saka Guvenc M
Arch Argent Pediatr 2020 Jun;118(3):e288-e291. doi: 10.5546/aap.2020.eng.e288. PMID: 32470267
Zenker M, Tralau T, Lennert T, Pitz S, Mark K, Madlon H, Dötsch J, Reis A, Müntefering H, Neumann LM
Am J Med Genet A 2004 Oct 1;130A(2):138-45. doi: 10.1002/ajmg.a.30310. PMID: 15372515
Toulemont PJ, Urvoy M, Coscas G, Lecallonnec A, Cuvilliers AF
Ophthalmology 1995 Feb;102(2):193-8. doi: 10.1016/s0161-6420(95)31036-6. PMID: 7862406

Clinical prediction guides

Alshamrani AA, Magliyah M, Alkuraya FS, Alabdi L, Alfaadhel TA, Alsulaiman SM
Ophthalmol Retina 2024 Feb;8(2):155-162. Epub 2023 Sep 9 doi: 10.1016/j.oret.2023.08.022. PMID: 37678612
Hao L, Ma Z, Song C, Zhu S
BMC Ophthalmol 2022 May 2;22(1):201. doi: 10.1186/s12886-022-02422-x. PMID: 35501768Free PMC Article
AlTaisan A, Magliyah M, Abouammoh MA, Taskintuna I, Alzahrani Y, Chang E, Alsulaiman SM
Ophthalmic Surg Lasers Imaging Retina 2020 Nov 1;51(11):618-627. doi: 10.3928/23258160-20201104-03. PMID: 33231694
Ramprasad VL, Sripriya S, Ronnie G, Nancarrow D, Saxena S, Hemamalini A, Kumar D, Vijaya L, Kumaramanickavel G
Mol Vis 2005 Nov 3;11:934-40. PMID: 16288197
Zenker M, Tralau T, Lennert T, Pitz S, Mark K, Madlon H, Dötsch J, Reis A, Müntefering H, Neumann LM
Am J Med Genet A 2004 Oct 1;130A(2):138-45. doi: 10.1002/ajmg.a.30310. PMID: 15372515

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