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X-linked myopia in Danish family
M Haim1, H C Fledelius, Skarsholm
1National Eye Clinic for the Visually Impaired, Copenhagen, Denmark.
Acta Ophthalmologica
|August 1, 1988
Summary
A newly identified X-linked infantile myopia syndrome includes vision impairment, optic nerve hypoplasia, and color vision deficiency. Further linkage studies are underway to understand this rare genetic eye condition.
Area of Science:
- Ophthalmology
- Medical Genetics
Background:
- X-linked infantile myopia is a rare genetic condition affecting vision.
- A large family was studied to characterize a potential new ocular syndrome.
Purpose of the Study:
- To describe a novel X-linked ocular syndrome.
- To detail the clinical features associated with this condition.
Main Methods:
- Clinical examination of 87 family members out of 273.
- Phenotypic characterization of affected individuals.
Main Results:
- Identified a syndrome including myopia, astigmatism, impaired vision, optic nerve hypoplasia, and deuteranopia.
- Obligate carriers showed minor retinal alterations.
Conclusions:
- The described condition may represent a new ocular syndrome.
- Ongoing linkage studies aim to identify the genetic basis.