Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Autosomal dominant simple microphthalmos

E M Vingolo1, K Steindl, R Forte

  • 1Institute of Ophthalmology, University of Rome La Sapienza, Italy.

Journal of Medical Genetics
|September 1, 1994
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Radon isotopes as tracers of climate-sensitive subsurface connectivity in Antarctic permafrost.

Environmental research·2026
Same author

Seismically induced fault leakage from the Val d'Agri hydrocarbon reservoir (Southern Italy).

The Science of the total environment·2025
Same author

A comprehensive monitoring approach for a naturally anoxic aquifer beneath a controlled landfill.

Chemosphere·2024
Same author

Double hit: Mantle Cell Lymphoma associated with squamous cell carcinoma or chalazion? A case report.

La Clinica terapeutica·2023
Same author

Papilledema in childhood for diagnosis of pseudotumor cerebri or late hydrocephalus: a case report.

La Clinica terapeutica·2023
Same author

Intravitreal injections primary prevention: a case-control study.

European review for medical and pharmacological sciences·2023
Same journal

Frequent <i>FBN2</i> variants in pectus excavatum highlight underlying phenotypic variability.

Journal of medical genetics·2026
Same journal

Longest surviving patient with a homozygous splice-altering <i>EGFR</i> pathogenic variant presenting with skin autoinflammation and a Bartter-like salt-losing tubulopathy.

Journal of medical genetics·2026
Same journal

Functional characterisation and pathological significance of variants of <i>MEF2C</i> promoter in tetralogy of Fallot.

Journal of medical genetics·2026
Same journal

Identification of biallelic loss-of-function <i>PREP</i> variants in three individuals with syndromic intellectual disability.

Journal of medical genetics·2026
Same journal

Inherited retinal disease genes with dual inheritance patterns: insights from the IRD-PT registry.

Journal of medical genetics·2026
Same journal

Interpreting <i>TP53</i> variants: somatic mosaicism and <i>ERCC6L2</i>-driven clonal evolution.

Journal of medical genetics·2026
See all related articles

Congenital bilateral microphthalmos, a rare eye condition, was studied in a large family. This research suggests it is an autosomal dominant trait, characterized by reduced eye length and microcornea without systemic issues.

Area of Science:

  • Ophthalmology
  • Medical Genetics

Background:

  • Congenital bilateral microphthalmos is a rare ocular malformation with variable severity.
  • It can be isolated or part of a systemic disorder, with various classification attempts.
  • Understanding its genetic basis and clinical spectrum is crucial for diagnosis and management.

Observation:

  • A large pedigree with 14 individuals across four generations presented with isolated bilateral microphthalmos.
  • Affected individuals showed no other ocular or systemic abnormalities.
  • Clinical evaluations included ophthalmological assessments and A-scan ultrasonography.

Findings:

  • Autosomal dominant inheritance with complete penetrance was proposed for this family's condition.
  • Ultrasonography revealed reduced total axial length (18.4-19.7 mm) and vitreous cavity length (11.4-13.5 mm).

Related Experiment Videos

  • All affected individuals exhibited microcornea (8-9.7 mm).

    • Implications:

    • The findings support 'simple microphthalmos' as a unifying term for conditions like partial posterior microphthalmos and nanophthalmos.
    • This research clarifies the genetic and phenotypic characteristics of an isolated form of congenital bilateral microphthalmos.
    • Further studies can refine diagnostic criteria and explore potential therapeutic targets for microphthalmos.