Blepharoptosis myopia ectopia lentis

Overview

A rare genetic condition characterized by dislocation of eye lens, nearsightedness and drooping upper eyelid.

Symptoms

* Drooping upper eyelid * Nearsightedness * Dislocated eye lens * Weak orbital connective tissue

Causes

* Must differentiate true ptosis from lid retraction, which occurs primarily from chemical stimulation (phenylephrine) or thyroid disease * Of all cases of ptosis, 60% are believed to be congenital; may be exacerbated with fatigue and age * Dermatochalasis (drooping tissue) may simulate ptosis * Lid conditions such as hordeola, chalazia, and lid cellulitis may present as ptosis * Previous lid or ocular surgery * Traumatic ptosis * Marcus Gunn (also called jaw-winking) syndrome * Myasthenia gravis * Third nerve palsy from hypertension, diabetes, aneurysm * Horner syndrome –Sympathetic lesion causing partial ptosis, miosis, and anhidrosis –Caused by tumors, aneurysms, inflammatory processes, injuries, or chest surgery * Acquired myogenic ptosis from local or diffuse muscular disease, such as muscular dystrophy, chronic progressive external ophthalmoplegia, or oculopharyngeal dystrophy * Chromosomal disorders –Turner syndrome, trisomy 18, 4p-, 18p * Fetal drug exposure –Alcohol, hydantoin, trimethadione * Inherited syndromes –Noonan, Smith-Lemli-Opitz, Aarskog * Migraine * Botulism * Poisoning –Lead, arsenicals, carbon monoxide * Thiamine deficiency * Carnitine deficiency * Vitamin E deficiency * Tangier disease * Hydrocephalus

Treatment

* Treat underlying medical condition when possible * Eyelid crutches attached to glasses may be used as temporizing measures, but may limit blinking and result in dry eyes * Eyelid surgery may be necessary * In children under age 10, if amblyopia in induced, surgical correction should be performed as soon as possible