Idiopathic macular hypoplasia: A report of four cases and refinement of the phenotype of so-called ateliotic macula

Jaafar El-Annan, A. Marcotty, P. Mitchell, Elias I. Traboulsi

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

PURPOSE. To refine the phenotype of idiopathic macular hypoplasia, also referred to as ateliotic macula, by describing a series of cases with this diagnosis. METHODS. A review of the clinical characteristics of four patients as documented in medical records with regard to refractive error, visual acuity, anterior segment examination, retinal findings, and ancillary tests such as electroretinography (ERG). RESULTS. All patients had oval circumscribed or diffuse areas in the posterior pole where the retina appeared not to have developed normally; the fovea was involved in three patients with reduced visual acuity, and one patient had parafoveal lesions with preserved visual acuity. There were three males and one females. Patients' age ranged from 4 to 16 years. Errors of refraction ranged from severe myopia to hypermetropia and mild astigmatism. The anterior segment was normal in all patients. Three patients had strabismus and two had nystagmus. ERG was normal in the one patient in whom it was performed. One patient was mosaic for trisomy of chromosome 9. CONCLUSIONS. The term idiopathic macular hypoplasia can be applied to a spectrum of abnormalities in which a localized area of the posterior pole has a primordial or underdeveloped appearance. Lesions involving the fovea result in poor acuity. Generalized retinal dysfunction is absent. At least one of the genes involved in macular development may be located on chromosome 9.

Original languageEnglish (US)
Pages (from-to)741-744
Number of pages4
JournalEuropean Journal of Ophthalmology
Volume16
Issue number5
StatePublished - Sep 2006
Externally publishedYes

Fingerprint

Phenotype
Visual Acuity
Electroretinography
Hyperopia
Chromosomes, Human, Pair 9
Refractive Errors
Astigmatism
Strabismus
Myopia
Medical Records
Retina
Genes

Keywords

  • Ateliotic macula
  • Children
  • Congenital
  • Macular hypoplasia
  • Myopia

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Idiopathic macular hypoplasia : A report of four cases and refinement of the phenotype of so-called ateliotic macula. / El-Annan, Jaafar; Marcotty, A.; Mitchell, P.; Traboulsi, Elias I.

In: European Journal of Ophthalmology, Vol. 16, No. 5, 09.2006, p. 741-744.

Research output: Contribution to journalArticle

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abstract = "PURPOSE. To refine the phenotype of idiopathic macular hypoplasia, also referred to as ateliotic macula, by describing a series of cases with this diagnosis. METHODS. A review of the clinical characteristics of four patients as documented in medical records with regard to refractive error, visual acuity, anterior segment examination, retinal findings, and ancillary tests such as electroretinography (ERG). RESULTS. All patients had oval circumscribed or diffuse areas in the posterior pole where the retina appeared not to have developed normally; the fovea was involved in three patients with reduced visual acuity, and one patient had parafoveal lesions with preserved visual acuity. There were three males and one females. Patients' age ranged from 4 to 16 years. Errors of refraction ranged from severe myopia to hypermetropia and mild astigmatism. The anterior segment was normal in all patients. Three patients had strabismus and two had nystagmus. ERG was normal in the one patient in whom it was performed. One patient was mosaic for trisomy of chromosome 9. CONCLUSIONS. The term idiopathic macular hypoplasia can be applied to a spectrum of abnormalities in which a localized area of the posterior pole has a primordial or underdeveloped appearance. Lesions involving the fovea result in poor acuity. Generalized retinal dysfunction is absent. At least one of the genes involved in macular development may be located on chromosome 9.",
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