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Related Experiment Video

Updated: Jan 25, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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[Bilateral familial anophthalmos].

C Manzini1, G B Orsini, V Gualandri

  • 1Université de Milan, Faculté de Médecine et Chirurgie, Italie.

Journal Francais D'Ophtalmologie
|January 1, 1988
PubMed
Summary

This study reports a rare genetic disorder in a family, characterized by bilateral anophthalmos (absent eyes) and cryptorchism (undescended testes) in multiple male infants, suggesting a potential hereditary pattern.

Area of Science:

  • Genetics
  • Ophthalmology
  • Pediatrics

Background:

  • This study investigates a rare familial disorder affecting multiple male infants.
  • The proband presented with severe congenital anomalies, including bilateral anophthalmos and cryptorchism.

Observation:

  • The proband, a 14-month-old male, exhibited bilateral anophthalmos, bilateral cryptorchism, phimosis, and nail decalcification.
  • He had smaller palpebral fissures and eyelids, with empty orbits lacking ocular buds.
  • A deceased brother also had bilateral anophthalmos.
  • The paternal family history revealed multiple affected individuals across generations, including Franceschetti syndrome and severe malformations.

Findings:

  • The proband had a normal karyotype, ruling out chromosomal abnormalities as the primary cause.

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  • The pattern of inheritance, particularly on the paternal side, suggests a potential autosomal recessive or X-linked genetic etiology for the observed anomalies.
  • Multiple affected males in the family with similar phenotypes point towards a specific genetic mutation.

    • Implications:

    • Understanding the genetic basis of this rare condition is crucial for genetic counseling and reproductive planning for affected families.
    • Further research, including molecular genetic analysis, is needed to identify the specific gene(s) responsible.
    • This case highlights the importance of detailed family history in diagnosing and understanding rare genetic disorders.