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The nanophthalmic macula

J C Serrano1, P R Hodgkins, D S Taylor

  • 1Department of Ophthalmology, Great Ormond Street Hospital for Children, London.

The British Journal of Ophthalmology
|May 29, 1998
PubMed
Summary
This summary is machine-generated.

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Nanophthalmos is associated with a distinct yellow macula appearance, retinal folds, and crowded optic discs in children. This presentation is likely congenital, not degenerative, and may be autosomal recessive.

Area of Science:

  • Ophthalmology
  • Genetics

Background:

  • Nanophthalmos is a rare developmental disorder characterized by a small, hyperopic eye.
  • The ocular findings in nanophthalmos can vary, but specific macular presentations require further definition.

Observation:

  • Seven pediatric patients with nanophthalmos presented with a consistent unusual yellow macula appearance.
  • Associated clinical findings included retinal folds and crowded optic discs.
  • Normal visual electrophysiology was observed in affected children.

Findings:

  • A distinctive yellow macular pigmentation, chorioretinal folds, and crowded optic discs are characteristic of nanophthalmos.
  • Retinal folds are hypothesized to result from scleral and retinal growth disparity.
  • Macular discoloration is attributed to congenital abnormalities of luteal pigment arrangement, not degeneration.

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Implications:

  • This study defines a specific macular phenotype associated with nanophthalmos.
  • Understanding the etiology of these findings aids in diagnosis and management.
  • The series includes a rare co-occurrence of nanophthalmos with Kenny's syndrome, suggesting potential genetic links.