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Familial bilateral optic nerve hypoplasia.

Y Hackenbruch, E Meerhoff, R Besio

    American Journal of Ophthalmology
    |February 1, 1975
    PubMed
    Summary
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    This study identifies bilateral optic nerve hypoplasia in a family across four generations, suggesting an autosomal dominant inheritance pattern. The consistent clinical presentation indicates a stationary visual defect.

    Area of Science:

    • Ophthalmology
    • Genetics
    • Pediatric Neurology

    Background:

    • Bilateral optic nerve hypoplasia (ONH) is a congenital condition affecting vision.
    • Familial cases of ONH are rare, with limited understanding of inheritance patterns.
    • Previous reports suggest varied inheritance, necessitating further investigation.

    Purpose of the Study:

    • To investigate the clinical presentation and inheritance pattern of bilateral ONH in a multi-generational family.
    • To characterize the ocular and neurological features associated with this familial ONH.
    • To determine the mode of inheritance and potential stability of the visual defect.

    Main Methods:

    • Clinical examination of affected individuals across four generations.
    • Ophthalmoscopy and funduscopy to assess optic nerve appearance.

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  • Pedigree analysis to determine the mode of inheritance.
  • Fluorescein angiography in a key family member.

    • Main Results:

    • Five individuals across four generations were affected with bilateral ONH.
    • Affected individuals presented with poor visual acuity, abnormal optic discs, and nystagmus.
    • Pedigree analysis strongly suggested an autosomal dominant inheritance pattern.
    • Fluorescein angiography revealed faint papillary fluorescence in one patient.

    Conclusions:

    • The findings suggest a distinct autosomal dominant form of bilateral optic nerve hypoplasia.
    • The consistent clinical features point towards a stationary visual impairment.
    • This family study contributes to understanding the genetic basis and clinical spectrum of ONH.