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Visual impairment and progressive phthisis bulbi(VIPB)

MedGen UID:
1648430
•Concept ID:
C4748978
•
Disease or Syndrome
Synonyms: VIPB; VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI
 
Gene (location): MARK3 (14q32.32-32.33)
 
Monarch Initiative: MONDO:0032655
OMIM®: 618283

Definition

Visual impairment and progressive phthisis bulbi is characterized by poor vision at birth, with development of bilateral phthisis by adulthood (Ansar et al., 2018). [from OMIM]

Clinical features

From HPO
Ptosis
MedGen UID:
2287
•Concept ID:
C0005745
•
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
See: Feature record | Search on this feature
Hypermetropia
MedGen UID:
43780
•Concept ID:
C0020490
•
Disease or Syndrome
An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.
See: Feature record | Search on this feature
Reduced visual acuity
MedGen UID:
65889
•Concept ID:
C0234632
•
Finding
Diminished clarity of vision.
See: Feature record | Search on this feature
Phthisis bulbi
MedGen UID:
124382
•Concept ID:
C0271007
•
Finding
Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease.
See: Feature record | Search on this feature
Cornea plana
MedGen UID:
576329
•Concept ID:
C0344529
•
Congenital Abnormality
Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Visual outcomes after treatment in pediatric patients with Coats' disease.
Chiu HH, Wan MJ, Kertes PJ, Muni RH, Lam WC
Can J Ophthalmol 2019 Dec;54(6):647-652. Epub 2019 Apr 9 doi: 10.1016/j.jcjo.2019.02.004. PMID: 31836093
Boston type 1 keratoprosthesis combined with silicone oil for treatment of hypotony in prephthisical eyes.
Chan CC, Holland EJ, Sawyer WI, Neff KD, Petersen MR, Riemann CD
Cornea 2011 Oct;30(10):1105-9. doi: 10.1097/ICO.0b013e318207f3bb. PMID: 21642848

Recent clinical studies

Etiology

Visual outcomes after treatment in pediatric patients with Coats' disease.
Chiu HH, Wan MJ, Kertes PJ, Muni RH, Lam WC
Can J Ophthalmol 2019 Dec;54(6):647-652. Epub 2019 Apr 9 doi: 10.1016/j.jcjo.2019.02.004. PMID: 31836093
Cyclodestructive procedures for non-refractory glaucoma.
Michelessi M, Bicket AK, Lindsley K
Cochrane Database Syst Rev 2018 Apr 25;4(4):CD009313. doi: 10.1002/14651858.CD009313.pub2. PMID: 29694684Free PMC Article
Long-Term Outcomes of Total Exudative Retinal Detachments in Stage 3B Coats Disease.
Li AS, Capone A Jr, Trese MT, Sears JE, Kychenthal A, De la Huerta I, Ferrone PJ
Ophthalmology 2018 Jun;125(6):887-893. Epub 2018 Feb 1 doi: 10.1016/j.ophtha.2017.12.010. PMID: 29361355
An update on ocular complications of Ebola virus disease.
Shantha JG, Crozier I, Yeh S
Curr Opin Ophthalmol 2017 Nov;28(6):600-606. doi: 10.1097/ICU.0000000000000426. PMID: 28872492Free PMC Article
Cataract and phthisis bulbi after laser photoablation for threshold retinopathy of prematurity.
Lambert SR, Capone A Jr, Cingle KA, Drack AV
Am J Ophthalmol 2000 May;129(5):585-91. doi: 10.1016/s0002-9394(99)00475-4. PMID: 10844048

Diagnosis

Long-Term Outcomes of Total Exudative Retinal Detachments in Stage 3B Coats Disease.
Li AS, Capone A Jr, Trese MT, Sears JE, Kychenthal A, De la Huerta I, Ferrone PJ
Ophthalmology 2018 Jun;125(6):887-893. Epub 2018 Feb 1 doi: 10.1016/j.ophtha.2017.12.010. PMID: 29361355
An update on ocular complications of Ebola virus disease.
Shantha JG, Crozier I, Yeh S
Curr Opin Ophthalmol 2017 Nov;28(6):600-606. doi: 10.1097/ICU.0000000000000426. PMID: 28872492Free PMC Article
Cataract and phthisis bulbi after laser photoablation for threshold retinopathy of prematurity.
Lambert SR, Capone A Jr, Cingle KA, Drack AV
Am J Ophthalmol 2000 May;129(5):585-91. doi: 10.1016/s0002-9394(99)00475-4. PMID: 10844048

Therapy

Visual outcomes after treatment in pediatric patients with Coats' disease.
Chiu HH, Wan MJ, Kertes PJ, Muni RH, Lam WC
Can J Ophthalmol 2019 Dec;54(6):647-652. Epub 2019 Apr 9 doi: 10.1016/j.jcjo.2019.02.004. PMID: 31836093
Cyclodestructive procedures for non-refractory glaucoma.
Michelessi M, Bicket AK, Lindsley K
Cochrane Database Syst Rev 2018 Apr 25;4(4):CD009313. doi: 10.1002/14651858.CD009313.pub2. PMID: 29694684Free PMC Article
Boston type 1 keratoprosthesis combined with silicone oil for treatment of hypotony in prephthisical eyes.
Chan CC, Holland EJ, Sawyer WI, Neff KD, Petersen MR, Riemann CD
Cornea 2011 Oct;30(10):1105-9. doi: 10.1097/ICO.0b013e318207f3bb. PMID: 21642848
Permanent keratoprosthesis combined with pars plana vitrectomy and silicone oil injection for visual rehabilitation of chronic hypotony and corneal opacity.
Utine CA, Gehlbach PL, Zimmer-Galler I, Akpek EK
Cornea 2010 Dec;29(12):1401-5. doi: 10.1097/ICO.0b013e3181e289a4. PMID: 20847680
Cataract and phthisis bulbi after laser photoablation for threshold retinopathy of prematurity.
Lambert SR, Capone A Jr, Cingle KA, Drack AV
Am J Ophthalmol 2000 May;129(5):585-91. doi: 10.1016/s0002-9394(99)00475-4. PMID: 10844048

Prognosis

Visual outcomes after treatment in pediatric patients with Coats' disease.
Chiu HH, Wan MJ, Kertes PJ, Muni RH, Lam WC
Can J Ophthalmol 2019 Dec;54(6):647-652. Epub 2019 Apr 9 doi: 10.1016/j.jcjo.2019.02.004. PMID: 31836093
Long-Term Outcomes of Total Exudative Retinal Detachments in Stage 3B Coats Disease.
Li AS, Capone A Jr, Trese MT, Sears JE, Kychenthal A, De la Huerta I, Ferrone PJ
Ophthalmology 2018 Jun;125(6):887-893. Epub 2018 Feb 1 doi: 10.1016/j.ophtha.2017.12.010. PMID: 29361355
Cataract and phthisis bulbi after laser photoablation for threshold retinopathy of prematurity.
Lambert SR, Capone A Jr, Cingle KA, Drack AV
Am J Ophthalmol 2000 May;129(5):585-91. doi: 10.1016/s0002-9394(99)00475-4. PMID: 10844048

Clinical prediction guides

Long-Term Outcomes of Total Exudative Retinal Detachments in Stage 3B Coats Disease.
Li AS, Capone A Jr, Trese MT, Sears JE, Kychenthal A, De la Huerta I, Ferrone PJ
Ophthalmology 2018 Jun;125(6):887-893. Epub 2018 Feb 1 doi: 10.1016/j.ophtha.2017.12.010. PMID: 29361355
Ocular ischemia with hypotony after injection of hyaluronic acid gel.
Kim YJ, Kim SS, Song WK, Lee SY, Yoon JS
Ophthalmic Plast Reconstr Surg 2011 Nov-Dec;27(6):e152-5. doi: 10.1097/IOP.0b013e3182082f37. PMID: 22082564
Falciform fold, retinal detachment, and Norrie's disease.
Jacklin HN
Am J Ophthalmol 1980 Jul;90(1):76-80. doi: 10.1016/s0002-9394(14)75079-2. PMID: 7395960

Recent systematic reviews

Cyclodestructive procedures for non-refractory glaucoma.
Michelessi M, Bicket AK, Lindsley K
Cochrane Database Syst Rev 2018 Apr 25;4(4):CD009313. doi: 10.1002/14651858.CD009313.pub2. PMID: 29694684Free PMC Article

Supplemental Content

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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