Ocular manifestations of Seckel syndrome

Medhat F. Guirgis; Byron L. Lam; Cleve W. Howard

doi:10.1016/S0002-9394(01)01046-7

Ocular manifestations of Seckel syndrome

Medhat F. Guirgis, Byron L. Lam, Cleve W. Howard

Ophthalmology

Research output: Contribution to journal › Article › peer-review

22 Scopus citations

Abstract

PURPOSE: To report ophthalmic findings in three siblings with Seckel syndrome. METHODS: Observational case report. Three siblings with Seckel syndrome were examined.RESULTS: Severe bilateral pigmentary retinopathy with severe myopia and astigmatism was found in all three patients. Electroretinography was performed on the eldest sibling and showed no detectable rod or cone responses. CONCLUSION: Severe, early onset, bilateral retinal degeneration with severe myopia and astigmatism may be associated with Seckel syndrome.

Original language	English (US)
Pages (from-to)	596-597
Number of pages	2
Journal	American journal of ophthalmology
Volume	132
Issue number	4
DOIs	https://doi.org/10.1016/S0002-9394(01)01046-7
State	Published - Oct 9 2001

ASJC Scopus subject areas

Ophthalmology

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10.1016/S0002-9394(01)01046-7

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title = "Ocular manifestations of Seckel syndrome",

abstract = "PURPOSE: To report ophthalmic findings in three siblings with Seckel syndrome. METHODS: Observational case report. Three siblings with Seckel syndrome were examined.RESULTS: Severe bilateral pigmentary retinopathy with severe myopia and astigmatism was found in all three patients. Electroretinography was performed on the eldest sibling and showed no detectable rod or cone responses. CONCLUSION: Severe, early onset, bilateral retinal degeneration with severe myopia and astigmatism may be associated with Seckel syndrome.",

author = "Guirgis, {Medhat F.} and Lam, {Byron L.} and Howard, {Cleve W.}",

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AU - Guirgis, Medhat F.

AU - Lam, Byron L.

AU - Howard, Cleve W.

PY - 2001/10/9

Y1 - 2001/10/9

N2 - PURPOSE: To report ophthalmic findings in three siblings with Seckel syndrome. METHODS: Observational case report. Three siblings with Seckel syndrome were examined.RESULTS: Severe bilateral pigmentary retinopathy with severe myopia and astigmatism was found in all three patients. Electroretinography was performed on the eldest sibling and showed no detectable rod or cone responses. CONCLUSION: Severe, early onset, bilateral retinal degeneration with severe myopia and astigmatism may be associated with Seckel syndrome.

AB - PURPOSE: To report ophthalmic findings in three siblings with Seckel syndrome. METHODS: Observational case report. Three siblings with Seckel syndrome were examined.RESULTS: Severe bilateral pigmentary retinopathy with severe myopia and astigmatism was found in all three patients. Electroretinography was performed on the eldest sibling and showed no detectable rod or cone responses. CONCLUSION: Severe, early onset, bilateral retinal degeneration with severe myopia and astigmatism may be associated with Seckel syndrome.

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Ocular manifestations of Seckel syndrome

Abstract

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