Presentation
A case of concordance for unilateral congenital ptosis in monozygotic twins is presented. The literature on genetics and congenital ptosis is reviewed. [ncbi.nlm.nih.gov]
Entire Body System
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Wound Infection
All children achieved satisfactory cosmetic and functional results, with no postoperative complications such as wound infection, corneal exposure, eyelid contour abnormalities, or ptosis overcorrection. No recurrence of ptosis was encountered. [ncbi.nlm.nih.gov]
Exposure keratitis, wound infection, eyelid contour abnormality or overcorrection was not observed in any patient. One case had trauma to the periorbital area one month following surgery which resulted in recurrent ptosis and required re‐operation. [onlinelibrary.wiley.com]
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Fishing
Subsequent clinical WAGR fluorescent in situ hybridization (FISH) analysis demonstrated a deletion of 11p13 including PAX6 and WT1. A complete FISH-mapping of the breakpoints on chromosome 11 revealed a 7 Mb deletion within 11p13-11p14. [ncbi.nlm.nih.gov]
Eyes
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Unilateral Ptosis
[…] versus 12/37, p 0.47) unilateral ptosis. [ncbi.nlm.nih.gov]
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Unilateral Ptosis
[…] versus 12/37, p 0.47) unilateral ptosis. [ncbi.nlm.nih.gov]
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Aniridia
Aniridia usually occurs in isolation, but may also occur as part of the WAGR contiguous gene deletion syndrome, which includes Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation. [ncbi.nlm.nih.gov]
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Ectopia Lentis
Dominantly inherited blepharoptosis, high myopia, and ectopia lentis. Arch Ophthalmol. 1982;100(2):282–4. View Article PubMed Google Scholar Herrad RA, Graham CM, Collin JR. Amblyopia and strabismus in congenital ptosis. [bmcophthalmol.biomedcentral.com]
Neurologic
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Hyperactivity
Preoperative evaluation included measurements of upper eyelid margin reflex distance (MRD1) and levator palpebrae superioris muscle excursion, assessment of frontalis hyperaction, and ocular motility examination. [ncbi.nlm.nih.gov]
Workup
If it’s between the ages of 1 and 20 years of age, so if it comes in, and they say this just started in the last several months, and they’re in this age range, those patients need a complete workup. [cybersight.org]
A patient with a strong family history of congenital ptosis may not need an extensive workup. [eyewiki.aao.org]
Treatment
A precociuos treatment is able to reduce the incidence of amblyopia from 34% to 8%. The choice of the treatment (resection Vs suspension) has to consider the age of the patient, the severity of ptosis and avaibility of fascia lata. [ncbi.nlm.nih.gov]
Prognosis
Results & Prognosis post surgery for congenital ptosis: The repair of congenital ptosis can produce excellent functional and cosmetic results. •With careful observation and treatment, amblyopia can be treated successfully. [oculoplastic-eyelid-orbit-surgery.com]
Prognosis The repair of congenital ptosis can produce excellent functional and cosmetic results. With careful observation and treatment, amblyopia can be treated successfully. [emedicine.medscape.com]
Infection Prognosis The repair of congenital ptosis can produce excellent functional and cosmetic results. With careful observation and treatment, amblyopia can be treated successfully. [eyewiki.aao.org]
Prognosis Congenital ptosis [ 2 ] Surgical correction usually produces excellent results and amblyopia can be avoided or treated successfully if detected early enough. [patient.info]
Etiology
Levator aponeurosis disinsertion is an accepted etiologic factor in some acquired ptosis cases, but it has not previously been reported as a cause of congenital ptosis. [ncbi.nlm.nih.gov]
Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. [icd10coded.com]
The etiology of this dysfunction is not clear, and there has been debate as to whether this represents a primary muscular or primary neurologic problem. [webeye.ophth.uiowa.edu]
Epidemiology
Orbital and Adnexal Service, Department of Ophthalmology, Villa Tiberia Hospital, Rome, Italy. 2 b Oftalmoplastica Roma, Rome, Italy. 3 c Department of Ophthalmology, IRCCS Istituto Neurologico Mediterraneo Neuromed, Pozzilli, IS, Italy. 4 d Department of Epidemiology [ncbi.nlm.nih.gov]
Keywords: amblyopia • clinical (human) or epidemiologic studies: prevalence/incidence • visual acuity 2012, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. [iovs.arvojournals.org]
Some forms of congenital ptosis may represent a form of congenital cranial dysinnervation disorder. [3] Epidemiology Frequency United States The frequency of congenital ptosis in the United States has not been officially reported. [emedicine.medscape.com]
Epidemiology There is no race or gender predilection. [patient.info]
Pathophysiology
Pathophysiology The eyelids are elevated by the contraction of the levator palpebrae superioris. In most cases of congenital ptosis, a droopy eyelid results from a localized myogenic dysgenesis. [emedicine.medscape.com]
Occlusion amblyopia Astigmatism from the compression of the droopy eyelid Ocular torticollis Pathophysiology The eyelids are elevated by the contraction of the levator palpebrae superioris. [eyewiki.aao.org]
Prevention
Early ophthalmic evaluation and timely treatment of these conditions may help prevent the irreversible visual impairment in case of congenital ptosis. [ncbi.nlm.nih.gov]