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Blepharophimosis forms a part of blepharophimosis, ptosis, epicanthus inversus syndrome (BPES), also called blepharophimosis syndrome, which is an autosomal dominant condition characterised by blepharophimosis, ptosis (upper eyelid drooping), epicanthus inversus (skin folds by the nasal bridge, more prominent lower than upper lid) and telecanthus (widening of the distance between the inner ...
Other common symptoms include lack of an eyelid fold, an appearance of widely spaced eyes (telecanthus), low nose bridge and ear malformations (including cupping and incomplete development). Rare symptoms include microphthalmos (abnormally small eyes), tear ducts in the wrong location and a high-arched palate . [ 1 ]
Blepharochalasis is an inflammation of the eyelid that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins. It typically affects only the upper eyelids, and may be unilateral as well as bilateral.
(H02.5) Stye, an acne type infection of the sebaceous glands on or near the eyelid. (H02.6) Xanthelasma of eyelid (H03.0*) Parasitic infestation of eyelid in diseases classified elsewhere Dermatitis of eyelid due to Demodex species ( B88.0+ ) Parasitic infestation of eyelid in: leishmaniasis ( B55.-+ ) loiasis ( B74.3+ ) onchocerciasis ( B73+ )
Drusen, from the German word for node or geode (singular, "Druse"), are tiny yellow or white accumulations of extracellular material that build up between Bruch's membrane and the retinal pigment epithelium of the eye. The presence of a few small ("hard") drusen is normal with advancing age, and most people over 40 have some hard drusen. [1]
A necropsy study of 737 cases showed a 2.4% incidence with 2 out of 15 (13%) bilateral, [2] perhaps indicating the insidious nature of many cases. An autosomal dominant inheritance pattern with incomplete penetrance and associated inherited dysplasia of the optic disc and its blood supply is suspected.
Other causes of ptosis include eyelid neoplasms, neurofibromas or cicatrization after inflammation or surgery. Mild ptosis may occur with aging. A drooping eyelid can be one of the first signals of a third-nerve palsy resulting from a cerebral aneurysm that is otherwise asymptomatic, a condition known as oculomotor nerve palsy.
Autosomal dominant optic atrophy can present clinically as an isolated bilateral optic neuropathy (non-syndromic form) or rather as a complicated phenotype with extra-ocular signs (syndromic form). Dominant optic atrophy usually affects both eyes roughly symmetrically in a slowly progressive pattern of vision loss beginning in childhood and is ...