increased axial length

Myopia 26, X-Linked, Female-Limited

Clinical Characteristics
Ocular Features: 

Affected females have high myopia with a tigroid fundus and temporal crescent of the optic nerve.  The eyes have an axial length of greater than 26 mm and a spherical refraction of -6 diopters or greater which are present before the age of 7 years.

Systemic Features: 

No systemic abnormalities have been found in this condition.

Genetics

Heterozygous missense and nonsense mutations in the ARR3 gene (Xq13.1) have been found in several Chinese families in which only females were affected.   Hemizygous males were not affected.

Treatment
Treatment Options: 

Correction of the refractive error improves vision.  Periodic eye examinations should be done to monitor for cataracts and retinal thinning.

References
Article Title: 

Blepharoptosis, Myopia, Ectopia Lentis

Clinical Characteristics
Ocular Features: 

A mother and 2 daughters with ectopia lentis, myopia, and blepharoptosis have been reported.  The axial length of the globes was increased in the mother and one of the daughters while the myopia in the other daughter with ectopia lentis was presumably lens-induced as the equator bisected the visual axis (axial length approximately 25mm).  The upper lid creases were considered to be abnormally high but levator function was good, consistent with levator aponeurosis disinsertion.  Extraocular movements were normal.  

Systemic Features: 

No systemic abnormalities were present.  More specifically, there was no evidence of Ehlers-Danlos (225400) or Marfan syndrome (154700).

Genetics

The presence of similar findings in a mother and 2 daughters suggests autosomal dominant inheritance but no locus has been identified. 

Pedigree: 
Autosomal dominant
Treatment
Treatment Options: 

Displaced lenses may need to be removed. 

References
Article Title: 
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