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At a glance

A genetic disease with features limited to the eye and its appendices.

Incidence

An extremely rare abnormality, but the exact incidence is not known.

Genetic inheritance

Inheritance is autosomal dominant. No genetic background or molecular data are available.

Pathophysiology

It has been suggested that a connective tissue defect in the sclera, the zonular fibers of Zinn and the aponeurosis of the levator palpebrae combined with abnormal insertion of levator palpebrae aponeurosis, is the underlying cause of the clinical features.

Diagnosis

Based on the clinical findings.

Clinical aspects

It presents with the triad of congenital blepharoptosis, ectopia lentis and high-grade myopia due to abnormally long eye globes. The upper eyelids are abnormally long, but the function of the levator palpebrae muscle is intact.

Precautions before anesthesia

Routine preoperative assessment.

Anesthetic considerations

Not different from healthy patients undergoing the same procedure. Especially in younger patients undergoing ophthalmic examination under general anesthesia, oculocardiac reflex with profound bradycardia should be expected (which is not specific to this syndrome). The treatment is twofold and includes first stopping the stimulation and second, if still necessary, anticholinergic drugs.

Pharmacological implications

None specific to this syndrome.

Other conditions to be considered

You can find a list of other blepharophimosis/blepharoptosis syndromes that should be considered including references, under ☞Blepharoptosis Ptosis and Epicanthus Inversus Syndrome.

  • ☞Blepharoptosis Ptosis and Epicanthus Inversus Syndrome: Hereditary syndrome affecting the eyelids, with the clinical triad of blepharophimosis, ptosis, and epicanthus inversus (a skin fold curving in the mediolateral direction inferior to the inner canthus).

Ectopia lentis can be associated with the following syndromes:

  • ☞Ehlers-Danlos Syndrome (EDS; Ehlers-Danlos Disease; Danlos Syndrome; Meekeren-Ehlers-Danlos Syndrome; Van Meekeren Syndrome Type I; Chernogubov Syndrome; Cutis Elastica; Sack Syndrome; Sack-Barabas Syndrome; Indian Rubber Man): Heterogeneous group (thirteen major types) of inherited connective tissue disorders characterized by joint hyperlaxity, skin hyperextensibility, and tissue fragility.

  • ☞Homocystinuria (Cystathionine Beta-Synthetase [CBS] Deficiency; Homocystinemia): Genetically transmitted error of metabolism of the amino acid methionine characterized by severe myopia, Marfan-like stature with pectus excavatum, slight mental retardation, and a tendency to develop spontaneous, generalized arterial and venous thromboses under stress.

  • ☞Marfan Syndrome: Familial disorder of generalized connective tissue abnormalities leading to connective tissue weakness with hyperextensible joints, eyes (dislocation of the lens), increased risk of valvular disease, aortic dissection, and spontaneous pneumothorax. The leading cause of mortality in infancy is progression from mitral valve prolapse to regurgitation often in conjunction with tricuspid regurgitation.

  • Sturge-Weber Syndrome (Fourth Phacomatosis Syndrome; Dimitri Disease; Jahnke Syndrome; Kalischer Syndrome; Lawford Syndrome; Müller Syndrome; Parkes-Weber Syndrome; Parkes-Weber-Dimitri Syndrome; Schirmer Syndrome; Sturge ...

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